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The Principles of Clinical Cytogenetics pp 133–164Cite as

Autosomal Aneuploidy

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Abstract

The term aneuploidy refers to cytogenetic abnormalities in which all or part of one or more chromosomes is added or deleted. Autosomal aneuploidy refers to all such abnormalities that do not involve the sex chromosomes. These can be either numerical (the topic of this chapter) or structural, the vast majority being trisomies, and can be present only in some cells (mosaic aneuploidy) or in all cells (nonmosaic). The incidence of autosomal aneuploidy in newborns is estimated to be 0.2% (1). Many autosomal aneuploidies are incompatible with fetal survival and, therefore, have much higher incidences (approximately 27–30%) in spontaneous abortuses (2–4). These are discussed below and covered in detail in Chapter 12.

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References

  1. Jacobs, P.A., Browne, C., Gregson, N., Joyce, C., and White, H. (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J. Med. Genet. 29, 103–108.

    CAS  PubMed Central  PubMed  Google Scholar 

  2. Hassold, T.J. and Takaesu, N. (1989) Analysis of non-disjunction in human trisomic spontaneous abortions. In Molecular and Cytogenetic Studies of Non-Disjunction (Hassold, T.J. and Epstein, C.J., eds.), Alan R. Liss, New York, pp. 115–134.

    Google Scholar 

  3. Warburton, D., Byrne, J. and Canki, N. (1991) Chromosome Anomalies and Prenatal Development: An Atlas. Oxford Monographs on Medical Genetics No. 21. Oxford University Press, New York.

    Google Scholar 

  4. Jacobs, P.A., Hassold, T.J., Henry, A., Pettay, D., and Takaesu, N. (1987) Trisomy 13 ascertained in a survey of spontaneous abortions. J. Med. Genet. 24, 721–724.

    CAS  PubMed Central  PubMed  Google Scholar 

  5. Martin, R.H., Ko, E., and Rademaker, A. (1991) Distribution of Aneuploidy in human gametes: comparison between human sperm and oöcytes. Am. J. Med. Genet. 39, 321–331.

    CAS  PubMed  Google Scholar 

  6. Guttenbach, M., Schakowski, R., and Schmid, M. (1994) Incidence of chromosome 3,7,10,11,17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization. Hum. Genet. 93, 7–12.

    CAS  PubMed  Google Scholar 

  7. Girardet, A., Coignet, L., Andreo, B., Lefort, G., Charlieu, J.P., and Pellestor, F. (1996) Aneuploidy detection in human sperm nuclei using PRINS technique. Am. J. Med. Genet. 64, 488–492.

    CAS  PubMed  Google Scholar 

  8. Pellestor, F., Girardet, A., Coignet, L., Andreo, B., and Charlieu, J.P. (1996) Assesment of aneuploidy for chromosomes 8, 9, 13, 16, and 21 in human sperm by using primed in situ labeling technique. Am. J. Hum. Genet. 58, 797–802.

    CAS  PubMed Central  PubMed  Google Scholar 

  9. Spriggs, E.L., Rademaker, A.W., and Martin, R.H. (1996) Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am. J. Hum. Genet. 58, 356–362.

    CAS  PubMed Central  PubMed  Google Scholar 

  10. Kuhn, E.M., Sarto, G.E., Bates, B.G., and Therman, E. (1987) Gene-rich chromosome regions and autosomal trisomy. Hum. Genet. 77, 214–220.

    CAS  PubMed  Google Scholar 

  11. Hanna, J.S., Shires, P., and Matile, G. (1997) Trisomy 1 in a clinically recognized pregnancy. Am. J. Med. Genet. 68, 98.

    CAS  PubMed  Google Scholar 

  12. Dunn, T.M., Grunfeld, L., and Kardon, N.B. (2001) Trisomy 1 in clinically recognized IVF pregnancy. Am. J. Med. Genet. 99, 152–153.

    CAS  PubMed  Google Scholar 

  13. Warren, A.C., Chakravarti, A., Wong, C., et al. (1987) Evidence for reduced recombination on the nondisjoined chromosome 21 in Down syndrome. Science 237, 652–654.

    CAS  PubMed  Google Scholar 

  14. Sherman, S.L., Takaesu, N., Freeman, S.B., et al. (1991) Trisomy 21: association between reduced recombination and nondisjunction. Am. J. Hum. Genet. 49, 608–620.

    CAS  PubMed Central  PubMed  Google Scholar 

  15. Antonarakis, S.E., Petersen, M.B., McInnis, M.G., et al. (1992) The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am. J. Hum. Genet. 50, 544–550.

    CAS  PubMed Central  PubMed  Google Scholar 

  16. Robinson, W.P., Bernasconi, F., Mutirangura, A., et al. (1993) Nondisjunction of chromosome 15: origin and recombination. Am. J. Hum. Genet. 53, 740–751.

    CAS  PubMed Central  PubMed  Google Scholar 

  17. Ya-gang, X., Robinson, W.P., Spiegel, R., Binkert, F., Ruefenacht, U., and Schinzel, A.A. (1993) Parental origin of the supernumerary chromosome in trisomy 18. Clin. Genet. 44, 57–61.

    CAS  PubMed  Google Scholar 

  18. Mutirangura, A., Greenberg, F., Butler, M.G., et al. (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum. Mol. Genet. 2, 143–151.

    CAS  PubMed  Google Scholar 

  19. Petersen, M.B., Antonarakis, S.E., Hassold, T.J., et al. (1993) Paternal nondisjunction in trisomy 21: excess of male patients. Hum. Mol. Genet. 2, 1691–1695.

    CAS  PubMed  Google Scholar 

  20. Zaragoza, M.V., Jacobs, P.A., James, R.S., Rogan, P., Sherman, S., and Hassold, T. (1994) Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94, 411–417.

    CAS  PubMed  Google Scholar 

  21. Hassold, T., Merrill, M., Adkins, K., Freeman, S., and Sherman, S. (1995) Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am. J. Hum. Genet. 57, 867–874.

    CAS  PubMed Central  PubMed  Google Scholar 

  22. Fisher, J.M., Harvey, J.F., Morton, N.E., and Jacobs, P.A. (1995) Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am. J. Hum. Genet. 56, 669–675.

    CAS  PubMed Central  PubMed  Google Scholar 

  23. Zittergruen, M.M., Murray, J.C., Lauer, R.M., Burns, T.L., and Sheffield, V.C. (1995) Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Circulation 92, 2803–2810.

    CAS  PubMed  Google Scholar 

  24. Eggermann, T., Nothen, M.M., Eiben, B., et al. (1996) Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum. Genet. 97, 218–223.

    CAS  PubMed  Google Scholar 

  25. Yoon, P.W., Freeman, S.B., Sherman, S.L., et al. (1996) Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosomal error: a population based study. Am. J. Hum. Genet. 58, 628–633.

    CAS  PubMed Central  PubMed  Google Scholar 

  26. Zaragoza, M.V., Millie, E., Redline, R.W., and Hassold, T.J. (1998) Studies of nondisjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J. Med. Genet. 35, 924–931.

    CAS  PubMed Central  PubMed  Google Scholar 

  27. Penrose, L. (1933) The relative effects of paternal and maternal age in mongolism. J. Genet. 27, 219–224.

    Google Scholar 

  28. Angell, R.R. (1997) First-meiotic-division nondidjunction in human oocytes. Am. J. Hum. Genet. 61, 23–32.

    CAS  PubMed Central  PubMed  Google Scholar 

  29. Angell, R.R., Xian, J., Keith, J., Ledger, W., and Baird, D.T. (1994) First meiotic division abnormalities in human oöcytes: mechanism of trisomy formation. Cytogenet. Cell Genet. 65, 194–202.

    CAS  PubMed  Google Scholar 

  30. Angell, R.R., Xian, J., and Keith, J. (1993) Chromosome anomalies in human oöcytes in relation to age. Hum. Reprod. 8, 1047–1054.

    CAS  PubMed  Google Scholar 

  31. Kumar, R.M., and Khuranna, A. (1995) The chromosome complement of human uncleaved oöcytes. J. Obstet. Gynaecol. 21, 601–607.

    CAS  Google Scholar 

  32. Lim, A.S., Ho, A.T., and Tsakok, M.F. (1995) Chromosomes of oöcytes failing in-vitro fertilization. Hum. Reprod. 10, 2570–2575.

    CAS  PubMed  Google Scholar 

  33. Roberts, C.G. and O’Neill, C. (1995) Increase in the rate of diploidy with maternal age in unfertilized in-vitro fertilization oöcytes. Hum. Reprod. 10, 2139–2141.

    CAS  PubMed  Google Scholar 

  34. Dailey, T., Dale, B., Cohen, J., and Munne, S. (1996) Association between nondisjunction and maternal age in meiosis-II human oöcytes. Am J. Hum. Genet. 59, 176–184.

    CAS  PubMed Central  PubMed  Google Scholar 

  35. Sandalinas, M., Márquez, C., and Munné, S. (2002) Spectral karyotyping of fresh, noninseminated oocytes. Mol. Hum. Reprod. 8, 580–585.

    PubMed  Google Scholar 

  36. Hook, E.B. (1983) Down syndrome rates and relaxed selection at older maternal ages. Am. J. Hum. Genet. 35, 1307–1313.

    CAS  PubMed Central  PubMed  Google Scholar 

  37. Stein, Z., Stein, W. and Susser, M. (1986) Attrition of trisomies as a screening device: an explanation for the association of trisomy 21 with maternal age. Lancet ii, 944–946.

    Google Scholar 

  38. Warburton, D. (1989) The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? In Molecular and Cytogenetic Studies of Non-Disjunction (Hassold T.J. and Epstein, C.J., eds.), Alan R. Liss, New York, pp. 165–181.

    Google Scholar 

  39. Kratzer, P.G., Golbus, M.S., Schonberg, S.A., Heilbron, D.C., and Taylor, R.N. (1992) Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. Am. J. Med. Genet. 44, 657–663.

    CAS  PubMed  Google Scholar 

  40. Henderson, S.A. and Edwards, R.G. (1968) Chiasma frequency and maternal age in mammals. Nature 218, 22–28.

    CAS  PubMed  Google Scholar 

  41. Cheng, E.Y., Chen, Y.J., and Gartler, S.M. (1995) A cytological evaluation of the production line hypothesis in human oögenesis using chromosome painting. Am J. Hum. Genet. 57, A51.

    Google Scholar 

  42. Kline, J., Kinney, A., Reuss, M.L., et al. (2003) Trisomy and the size of the oocyte pool: No connection? Am. J. Hum. Genet. 73(5)(Suppl.), 203.

    Google Scholar 

  43. Hassold, T., Sherman, S., and Hunt, P. (2000) Counting cross-overs: characterizing meiotic recombination in mammals. Hum. Mol. Genet. 9, 2409–2419.

    CAS  PubMed  Google Scholar 

  44. Sherman, S.L., Petersen, M.B., Freeman, S.B., et al. (1994) Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum. Mol. Genet. 3, 1529–1535.

    CAS  PubMed  Google Scholar 

  45. Lamb, N.E., Feingold, E., Savage, A., et al. (1997) Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet. 6, 1391–1399.

    CAS  PubMed  Google Scholar 

  46. Lamb, N.E., Freeman, S.B., Savage-Austin, A., et al. (1996) Susceptible chiasmata configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nature Genet. 14, 400–405.

    CAS  PubMed  Google Scholar 

  47. Hawley, R.S., Frazier, J.A., and Rasooly, R. (1994) Separation anxiety: the etiology of nondisjunction in flies and people. Hum. Mol. Genet. 3, 1521–1528.

    CAS  PubMed  Google Scholar 

  48. Alfi, O.S., Chang, R., and Azen, S.P. (1980) Evidence for genetic control of nondisjunction in man. Am. J. Hum. Genet. 32, 477–483.

    CAS  PubMed Central  PubMed  Google Scholar 

  49. Lejeune, J., Gautier, M., and Turpin, R. (1959) Les chromosomes humains en culture de tissus. C.R. Acad. Sci. 248, 602–603.

    CAS  Google Scholar 

  50. Down, J.L.H. (1866) Observations on an ethnic classification of idiots. Clin. Lect. Rep. London Hosp. 3, 259.

    Google Scholar 

  51. Griffin, D.K., Abruzzo, M.A., Millie, E.A., Feingold, E., and Hassold, T.J. (1996) Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am. J. Hum. Genet. 59, 1108–1113.

    CAS  PubMed Central  PubMed  Google Scholar 

  52. Cuckle, H.S., Wald, N.J., and Thompson, S.G. (1987) Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br. J. Obstet. Gynaecol. 94, 387–402.

    CAS  PubMed  Google Scholar 

  53. Hecht, C.A. and Hook, E.B. (1994) The imprecision in rates of Down syndrome by 1-year maternal age intervals: a critical analysis of rates used in biochemical screening. Prenat. Diagn. 14, 729–738.

    CAS  PubMed  Google Scholar 

  54. de Grouchy, J. and Turleau, C. (eds.) (1984) Clinical Atlas of Human Chromosomes. John Wiley, New York.

    Google Scholar 

  55. Jones, K.L. (ed.) (1997) Smith’s Recognizable Patterns of Human Malformation. WB Saunders, Philadelphia.

    Google Scholar 

  56. Fong, C.T. and Brodeur, G.M. (1987) Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet. Cytogenet. 28, 55–76.

    CAS  PubMed  Google Scholar 

  57. Bhatt, S., Schreck, R., Graham, J.M., Korenberg, J.R., Hurvitz, C.G., and Fischel-Ghodsian, N. (1995) Transient leukemia with trisomy 21: description of a case and review of the literature. Am. J. Med. Genet. 58, 310–314.

    CAS  PubMed  Google Scholar 

  58. Pellissier, M.C., Laffage, M., Philip, N., Passage, E., Mattei, M.G., and Mattei, J.F. (1988) Trisomy 21q223 and Down’s phenotype correlation evidenced by in situ hybridization. Hum. Genet. 80, 277–281.

    CAS  PubMed  Google Scholar 

  59. McCormick, M.K., Schinzel, A., Petersen, M.B., et al. (1989) Molecular genetic approach to the characterization of the “Down syndrome region” of chromosome 21. Genomics 5, 325–331.

    CAS  PubMed  Google Scholar 

  60. Rahmani, Z., Blouin, J.L., Creau-Goldberg, N., et al. (1989) Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc. Natl. Acad. Sci. USA 86, 5958–5962.

    CAS  PubMed Central  PubMed  Google Scholar 

  61. Delabar, J.M., Theophile, D., Rahmani, Z., et al.(1993) Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet. 1, 114–124.

    CAS  PubMed  Google Scholar 

  62. Korenberg, J.R., Kawashima, H., Pulst, S.M., et al. (1990) Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am. J. Hum. Genet. 47, 236–246.

    CAS  PubMed Central  PubMed  Google Scholar 

  63. Barlow, G.M., Chen, X-N., Shi, Z.Y., et al. (2001) Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet. Med. 3, 91–101.

    CAS  PubMed  Google Scholar 

  64. Korenberg, J.R., Chen, X.N., Schipper, R., et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc. Natl. Acad. Sci. USA 91, 4997–5001.

    CAS  PubMed Central  PubMed  Google Scholar 

  65. Gardner, R.J.M. and Sutherland, G.R. (eds.) (1996) Chromosome Abnormalities and Genetic Counseling. Oxford Monographs on Medical Genetics No. 29. Oxford University Press, New York.

    Google Scholar 

  66. Pangalos, C.G., Talbot, C.C., Jr., Lewis, J.G., et al. (1992) DNA polymorphism analysis in families with recurrence of free trisomy 21. Am. J. Hum. Genet. 51, 1015–1027.

    CAS  PubMed Central  PubMed  Google Scholar 

  67. Harris, D.J., Begleiter, M.L., Chamberlin, J., Hankins, L., and Magenis, R.E. (1982) Parental trisomy 21 mosaicism. Am. J. Hum. Genet. 34, 125–133.

    CAS  PubMed Central  PubMed  Google Scholar 

  68. Nielsen, K.G., Poulsen, H., Mikkelsen, M., and Steuber, E. (1988) Multiple recurrence of trisomy 21 Down syndrome. Hum. Genet. 78, 103–105.

    CAS  PubMed  Google Scholar 

  69. Niikawa, N. and Kajii, T. (1984) The origin of mosaic Down syndrome: four cases with chromosome markers. Am. J. Hum. Genet. 36, 123–130.

    CAS  PubMed Central  PubMed  Google Scholar 

  70. Pangalos, C., Avramopoulos, D., Blouin, J., et al. (1994) Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am. J. Hum. Genet. 54, 473–481.

    CAS  PubMed Central  PubMed  Google Scholar 

  71. Edwards, J.H., Harnden, D.G., Cameron, A.H., Crosse, V.M., and Wolff, O.H. (1960) A new trisomic syndrome. Lancet 1, 787–790.

    CAS  PubMed  Google Scholar 

  72. Carter, P., Pearn, J., Bell, J., Martin, N., and Anderson, N. (1985) Survival in trisomy 18. Clin. Genet. 27, 59–61.

    CAS  PubMed  Google Scholar 

  73. Young, I., Cook, J., and Mehta, L. (1986) Changing demography of trisomy 18. Arch. Dis. Child. 61, 1035–1036.

    CAS  PubMed Central  PubMed  Google Scholar 

  74. Goldstein, H. and Nielsen, K. (1988) Rates and survival of individuals with trisomy 13 and 18. Clin. Genet. 34, 366–372.

    CAS  PubMed  Google Scholar 

  75. Root, S. and Carey, J.C. (1994) Survival in trisomy 18. Am J. Med. Genet. 49, 170–174.

    CAS  PubMed  Google Scholar 

  76. Geiser, C.F. and Chindlera, N. (1969) Long survival in a male with trisomy 18 and Wilms tumor. Pediatrics 44, 111.

    CAS  PubMed  Google Scholar 

  77. Van Dyke, D.C., and Allen, M. (1990) Clinical management considerations in long-term survivors with trisomy 18. Pediatrics 85, 753–759.

    PubMed  Google Scholar 

  78. Mehta, L., Shannon, R.S., Duckett, D.P., and Young, I.D. (1986) Trisomy 18 in a 13 year old girl. J. Med. Genet. 23, 256–257.

    CAS  PubMed Central  PubMed  Google Scholar 

  79. Beratis, N.G., Kardon, N.B., Hsu, L.Y.F., Grossmann, D., and Hirschhorn, K. (1972) Prenatal mosaicism in trisomy 18. Pediatr. 50, 908–911.

    CAS  Google Scholar 

  80. Kohn, G. and Shohat, M. (1987) Trisomy 18 mosaicism in an adult with normal intelligence. Am. J. Med. Genet. 26, 929–931.

    CAS  PubMed  Google Scholar 

  81. Gersdorf, E., Utermann, B., and Utermann, G. (1990) Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage. Hum. Genet. 84, 298–299.

    CAS  PubMed  Google Scholar 

  82. Sarigol, S.S. and Rogers, D.G. (1994) Trisomy 18 mosaicism in a thirteen-year-old girl with normal intelligence, delayed pubertal development, and growth failure. Am. J. Med. Genet. 50, 94–95.

    CAS  PubMed  Google Scholar 

  83. Butler, M.G. (1994) Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities. Am. J. Med. Genet. 53, 92–93.

    CAS  PubMed  Google Scholar 

  84. Collins, A.L., Fisher, J., Crolla, J.A., and Cockwell, A.E. (1995) Further case of trisomy 18 mosaicism with a mild phenotype. Am. J. Med. Genet. 56, 121–122.

    CAS  PubMed  Google Scholar 

  85. Mewar, R., Kline, A.D., Harrison, W., Rojas, K., Greenberg, F., and Overhauser, J. (1993) Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am. J. Hum. Genet. 53, 1269–1278.

    CAS  PubMed Central  PubMed  Google Scholar 

  86. Boghosian-Sell, L., Mewar, R., Harrison, W., et al. (1994) Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am. J. Hum. Genet. 55, 476–483.

    CAS  PubMed Central  PubMed  Google Scholar 

  87. FitzPatrick, D.R. and Boyd, E. (1989) Recurrences of trisomy 18 and trisomy 13 after trisomy 21. Hum. Genet. 82, 301.

    CAS  PubMed  Google Scholar 

  88. Stene, J. and Stene, E. (1984) Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. Prenat. Diagn. 4, 81–95.

    PubMed  Google Scholar 

  89. Baty, B.J., Blackburn, B.L., and Carey, J.C. (1994) Natural history of trisomy 18 and trisomy 13: I. growth, physical assessment, medical histories, survival, and recurrence risk. Am. J. Med. Genet. 49, 175–188.

    CAS  PubMed  Google Scholar 

  90. Patau, K., Smith, D.W., Therman, E., Inhorn, S.L., and Wagner, H.P. (1960) Multiple congenital anomaly caused by an extra autosome. Lancet i, 790–793.

    Google Scholar 

  91. Tharapel, S.A., Lewandowski, R.C., Tharapel, A.T., and Wilroy, R.S., Jr., (1986) Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J. Med. Genet. 23, 310–315.

    CAS  PubMed Central  PubMed  Google Scholar 

  92. Helali, N., Iafolla, A.K., Kahler, S.G., and Qumsiyeh, M.B. (1996) A case of duplication of 13q32-qter and deletion of 18p11.32-pter with mild phenotype: Patau syndrome and duplications of 13q revisited. J. Med. Genet. 33, 600–602.

    CAS  PubMed Central  PubMed  Google Scholar 

  93. de Grouchy, J., Turleau, C., and Leonard, C. (1971) Etude en fluoresence d’une trisomie C mosaique probablement 8: 46,XY/47,XY,?8+. Ann. Genet. 14, 69–72.

    PubMed  Google Scholar 

  94. Riccardi, V.M. (1977) Trisomy 8: an international study of 70 patients. Birth Defects 13, 171.

    CAS  PubMed  Google Scholar 

  95. Schinzel, A. (1983) Trisomy 8 mosaicism. In Catalogue of Unbalanced Chromosome Aberrations in Man, Walter de Gruyter, Berlin, pp. 325–328.

    Google Scholar 

  96. Götze, A., Krebs, P., Stumm, M., Wieacker, P., and Allhoff, E.P. (1999) Trisomy 8 mosaicism in a patient with tetraamelia. Am. J. Med. Genet. 86, 497–498.

    PubMed  Google Scholar 

  97. Habecker-Green, J., Naeem, R., Goh, W., Pflueger, S., Murray, M., and Cohn, G. (1998) Reproduction in a patient with trisomy 8 mosaicism: case report and literature review. Am. J. Med Genet. 75, 382–385.

    CAS  PubMed  Google Scholar 

  98. Gafter, U., Shabtai, F., Kahn, Y., Halbrecht, I., and Djaldetti, M. (1976) Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. ultrastructural studies of polymorphonuclear cells in peripheral blood. Clin. Genet. 9, 134–142.

    CAS  PubMed  Google Scholar 

  99. Hasle, H., Clausen, N., Pedersen, B., and Bendix-Hansen, K. (1995) Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet. Cytogenet. 79, 79–81.

    CAS  PubMed  Google Scholar 

  100. Feingold, M. and Atkins, L. (1973) A case of trisomy 9. J. Med. Genet. 10, 184–187.

    CAS  PubMed Central  PubMed  Google Scholar 

  101. Haslam, R.H.A., Broske, S.P., Moore, C.M., Thomas, G.H., and Neill, C.A. (1973) Trisomy 9 mosaicism with multiple congenital anomalies. J. Med. Genet. 10, 180–184.

    CAS  PubMed Central  PubMed  Google Scholar 

  102. Arnold, G.L., Kirby, R.S., Stern, T.P., and Sawyer, J.R. (1995) Trisomy 9: review and report of two new cases. Am. J. Med. Genet. 56, 252–257.

    CAS  PubMed  Google Scholar 

  103. Wooldridge, J. and Zunich, J. (1995) Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am. J. Med. Genet. 56, 258–264.

    CAS  PubMed  Google Scholar 

  104. Stoll, C., Chognot, D., Halb, A., and Luckel, J.C. (1993) Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. J. Med. Genet. 30, 433–435.

    CAS  PubMed Central  PubMed  Google Scholar 

  105. Cantu, E., Eicher, D.J., Pai, G.S., Donahue, C.J., and Harley, R.A. (1996) Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J. Med. Genet. 62, 330–335.

    CAS  PubMed  Google Scholar 

  106. Saneto, R.P., Applegate, K.E., and Frankel, D.G. (1998) Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay. Am. J. Med. Genet. 80, 42–45.

    CAS  PubMed  Google Scholar 

  107. Yancey, M.K., Hardin, E.L., Pacheco, C., Kuslich, C.D., and Donlon, T.A. (1996) Nonmosaic trisomy 16 in a third trimester fetus. Obstet. Gynecol. 87, 856–860.

    CAS  PubMed  Google Scholar 

  108. Gilbertson, N.J., Taylor, J.W., and Kovar, I.Z. (1990) Mosaic trisomy 16 in a live newborn infant. Arch. Dis. Child. 65, 388–389.

    CAS  PubMed Central  PubMed  Google Scholar 

  109. Devi, A.S., Velinov, M., Kamath, M.V., et al. (1993) Variable clinical expression of mosaic trisomy 16 in the newborn infant. Am. J. Med. Genet. 47, 294–298.

    CAS  PubMed  Google Scholar 

  110. Lindor, N.M., Jalal, S.M., Thibodeau, S.N., Bonde, D., Sauser, K.L., and Karnes, P.S. (1993) Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16. Clin. Genet. 44, 185–189.

    CAS  PubMed  Google Scholar 

  111. Garber, A., Carlson, D., Schreck, R., et al. (1994) Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat. Diagn. 14, 257–266.

    CAS  PubMed  Google Scholar 

  112. Pletcher, B.A., Sanz, M.M., Schlessel, J.S., et al. (1994) Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns. Prenat. Diagn. 14, 933–940.

    CAS  PubMed  Google Scholar 

  113. Hajianpour, M.J. (1995) Postnatally confirmed trisomy 16 mosaicism: follow-up on a previously reported patient. Prenat. Diagn. 15, 877–879.

    CAS  PubMed  Google Scholar 

  114. Hsu, WT., Shchepin, D.A., Mao, R., et al. (1998) Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am. J. Med. Genet. 80, 473–480.

    CAS  PubMed  Google Scholar 

  115. Hsu, L.Y.F., Kaffe, S., and Perlis, T.E. (1991) A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases. Prenat. Diagn. 11, 7–15.

    CAS  PubMed  Google Scholar 

  116. Miny, P., Karabacak, Z., Hammer, P., Schulte-Vallentin, M., and Holzgreve, W. (1989) Chromosome analyses from urinary sediment: postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism. New Engl. J. Med. 320, 809.

    CAS  PubMed  Google Scholar 

  117. Park, J.P., Moeschler, J.B., Rawnsley, E., Berg, S.Z., and Wurster-Hill, D.H. (1989) Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn Prenat. Diagn. 9, 501–504.

    CAS  PubMed  Google Scholar 

  118. Van Dyke, D.L., Roberson, J.R., Babu, V.R., Weiss, L., and Tyrkus, M. (1989) Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts. Prenat. Diagn. 9, 601–602.

    PubMed  Google Scholar 

  119. Brothman, A.R., Rehberg, K., Storto, P.D., Phillips, S.E., and Mosby, R.T. (1992) Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male. Clin. Genet. 42, 47–49.

    CAS  PubMed  Google Scholar 

  120. Warren, N.S., Soukup, S., King, J.L., and Dignan, P. S.J. (2001) Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome. Prenat. Diagn. 21, 1111–1113.

    Google Scholar 

  121. Baty, B.J., Olson, S.B., Magenis, R.E., and Carey, J.C. (2001) Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. Am. J. Med. Genet. 99, 210–216.

    CAS  PubMed  Google Scholar 

  122. Hsu, L.Y.F., Kaffe, S., and Perlis, T.E. (1987) Trisomy 20 mosaicism in prenatal diagnosis—a review and update. Prenat. Diagn. 7, 581–596.

    CAS  PubMed  Google Scholar 

  123. Punnett, H.H. and Kistenmacher, M.L. (1990) Confirmation of prenatally ascertained trisomy 20 mosaicism. Prenat. Diagn. 10, 136–137.

    CAS  PubMed  Google Scholar 

  124. Hsu, L.Y.F., Shapiro, L.R., Gertner, M., Lieber, E., and Hirschhorn, K. (1971) Trisomy 22: a clinical entity. J. Pediatr. 79, 12–19.

    CAS  PubMed  Google Scholar 

  125. Bacino, C.A., Schreck, R., Fischel-Ghodsian, N., Pepkowitz, S., Prezant, T.R., and Graham, J.M., Jr. (1995) Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am. J. Med. Genet. 56, 359–365.

    CAS  PubMed  Google Scholar 

  126. Hirschhorn, K., Lucas, M., and Wallace, I. (1973) Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36, 375–379.

    CAS  PubMed  Google Scholar 

  127. Pridjian, G., Gill, W.L., and Shapira, E. (1995) Goldenhar sequence and mosaic trisomy 22. Am. J. Med. Genet. 59, 411–413.

    CAS  PubMed  Google Scholar 

  128. Ladonne, J., Gaillard, D., Carre-Pigeon, F., and Gabriel, R. (1996) Fryns syndrome phenotype and trisomy 22. Am. J. Med. Genet. 61, 68–70.

    CAS  PubMed  Google Scholar 

  129. Crowe, C.A., Schwartz, S., Black, C.J., and Jaswaney, V. (1997) Mosaic Trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am. J. Med. Genet. 71, 406–413.

    CAS  PubMed  Google Scholar 

  130. Robinson, W.P. and Kalousek, D.K. (1996) Mosaicism most likely accounts for extended survival of trisomy 22. Am. J. Med. Genet. 62, 100.

    CAS  PubMed  Google Scholar 

  131. Kukolich, M.K., Kulharya, A., Jalal, S.M., and Drummond-Borg, M. (1989) Trisomy 22: no longer an enigma. Am. J. Med. Genet. 34, 541–544.

    CAS  PubMed  Google Scholar 

  132. Sago, H., Chen, E., Conte, W.J., Cox, V.A., Goldberg, J.D., Lebo, R.V., and Golabi, M. (1997) True trisomy 2 mosicism in amniocytes and newborn liver associated with multiple system abnormalities. Am. J. Med. Genets. 72, 343–346.

    CAS  Google Scholar 

  133. Casey, J., Ketterer, D.M., Heisler, K.L., Daugherty, E.A., Prince, P.M., and Giles, H.R. (1990) Prenatal diagnosis of trisomy 2 mosaicism confirmed in foreskin fibroblasts. Am. J. Hum. Genet. 47, A270.

    Google Scholar 

  134. Metaxotou, C., Tsenghi, C., Bitzos, I., Strataki-Benetou, M., Kalpini-Mavrou, A., and Matsaniotis, N. (1981) Trisomy 3 mosaicism in a live-born infant. Clin. Genet. 19, 37–40.

    CAS  PubMed  Google Scholar 

  135. Smith, S.C., Varela, M., Toebe, C., and Shapira, E. (1988) Trisomy 3 mosaicism: a case report. Am. J. Hum. Genet. 43, A71.

    Google Scholar 

  136. Marion, J.P., Fernhoff, P.M., Korotkin J., and Priest, J.H. (1990) Pre-and postnatal diagnosis of trisomy 4 mosaicism. Am. J. Med. Genet. 37, 362–365.

    CAS  PubMed  Google Scholar 

  137. Sciorra, L.J., Hux, C., Day-Salvadore, D., et al. (1992) Trisomy 5 mosaicism detected prenatally with an affected liveborn. Prenat. Diagn. 12, 477–482.

    CAS  PubMed  Google Scholar 

  138. Miller, K.R., Muhlhaus, K., Herbst, R.A., Bohnhorst, B., Bohmer, S., and Arslan-Kirchner, M. (2001) Patient with trisomy 6 mosaicism. Am. J. Med. Genet. 100, 103–105.

    CAS  PubMed  Google Scholar 

  139. Magenis, E., Webb, M.J., Spears, B., and Opitz, J.M. (1999) Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. Am. J. Med. Genet. 87, 375–383.

    CAS  PubMed  Google Scholar 

  140. Kayser, M., Henderson, L.B., Kreutzman, J., Schreck, R., and Graham, J.M. (2000) Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. Am. J. Med. Genet. 95, 281–284.

    CAS  PubMed  Google Scholar 

  141. Kivirikko, S., Salonen, R., Salo, A., and von Koskull, H. (2002) Prenatally detected trisomy 7 mosaicism in a dysmorphic child. Prenat. Diagn. 22, 541–544.

    PubMed  Google Scholar 

  142. deFrance, H.F., Beemer, F.A., Senders, R.C., and Schaminee-Main, S.C. (1985) Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome. Clin. Genet. 27, 92–96.

    CAS  Google Scholar 

  143. Mielke, G., Enders, H., Goelz, R., Klein-Vogler, U., Ulmer, R., and Trautmann, U. (1997) Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood. Clin. Genet. 51, 275–277.

    CAS  PubMed  Google Scholar 

  144. Richer, C.L., Bleau, G., and Chapdelaine, A. (1977) Trisomy 12 mosaicism in an infertile man. Can. J. Genet. Cytol. 19, 565–567.

    CAS  PubMed  Google Scholar 

  145. Leschot, N.J., Wilmsen-Linders, E.J., van Geijn, H.P., Samsom, J.F., and Smit, L.M. (1988) Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis. Clin. Genet. 34, 135–139.

    CAS  PubMed  Google Scholar 

  146. Von Koskull, H., Ritvanen, A., Ammala, P., Gahmberg, N., and Salonen, R. (1989) Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample. Prenat. Diagn. 9, 433–437.

    Google Scholar 

  147. English, C.J., Goodship, J.A., Jackson, A., Lowry, M., and Wolstenholme, J. (1994) Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. J. Med. Genet. 3, 253–254.

    Google Scholar 

  148. DeLozier-Blanchet, C.D., Roeder, E., Denis-Arrue, R., et al. (2000) Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am. J. Med. Genet. 95, 444–449.

    CAS  PubMed  Google Scholar 

  149. Fujimoto, A., Allanson, J., Crowe, C.A., Lipson, M.H., and Johnson, V.P. (1992) Natural history of mosaic trisomy 14 syndrome. Am. J. Med. Genet. 44, 189–196.

    CAS  PubMed  Google Scholar 

  150. Sepulveda, W., Monckeberg, M.J., and Be, C. (1998) Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings. Prenat. Diagn. 18, 481–484.

    CAS  PubMed  Google Scholar 

  151. Bühler, E.M., Bienz, G., Straumann, E., and Bösch, N. (1996) Delineation of a clinical syndrome caused by mosaic trisomy 15. Am. J. Med. Genet. 62, 109–112.

    PubMed  Google Scholar 

  152. Milunsky, J.M., Wyandt, H.E., Huang, X.L., Kang X.Z., Elias, E.R., and Milunsky, A. (1996) Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am. J. Med. Genet. 61, 269–273.

    CAS  PubMed  Google Scholar 

  153. Olander, E., Stamberg, J., Steinberg, L., and Wulfsberg, E.A. (2000) Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. Am. J. Med. Genet. 93, 215–218.

    CAS  PubMed  Google Scholar 

  154. Gerard-Blanluet, M., Elbez, A., Bazin, A., Danan, C., Verloes, A., and Janaud, J.D. (2001) Mosaic trisomy 15 and hemihypertrophy. Ann. Genet. 44, 143–148.

    CAS  PubMed  Google Scholar 

  155. Coldwell, S., Fitzgerald, B., Semmens, J.M., Ede, R., and Bateman, C. (1981) A case of trisomy of chromosome 15. J. Med. Genet. 18, 146–148.

    CAS  PubMed Central  PubMed  Google Scholar 

  156. Kuller, J.A. and Laifer, S.A. (1991) Trisomy 15 associated with nonimmune hydrops. Am. J. Perinatol. 8, 39–40.

    CAS  PubMed  Google Scholar 

  157. Shaffer, L.G., McCaskill, C., Hersh, J.H., Greenberg, F., and Lupski, J.R. (1996) A clinical and molecular study of mosaicism for trisomy 17. Hum. Genet. 97, 69–72.

    CAS  PubMed  Google Scholar 

  158. Lesca, G., Boggio, D., Bellec, V., Magaud, J.P., and Till, M. (1999) Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts. Prenat. Diagn. 19, 263–265.

    CAS  PubMed  Google Scholar 

  159. Chen, H., Yu, C.W., Wood, M.J., and Landry, K. (1981) Mosaic trisomy 19 syndrome. Ann. Genet. 24, 32–33.

    CAS  PubMed  Google Scholar 

  160. Rethore, M.O., Debray, P., Guesne, M.C., Amedee-Manesme, O., Iris, L., and Lejeune, J. (1981) A case of trisomy 19 mosaicism. Ann. Genet. 24, 34–36.

    CAS  PubMed  Google Scholar 

  161. Wurster-Hill, D.H., Moeschler, J.M., Park, J.P., and McDermet, M.K. (1990) Mosaicism for monosomy 20 in a 30 month old boy. Am. J. Hum. Genet. 47, A44.

    Google Scholar 

  162. Richmond, H.G., MacArthur, P., and Hunter, D. (1973) A “G” deletion syndrome anti-mongolism. Acta Paediatr. Scand. 62, 216–220.

    CAS  PubMed  Google Scholar 

  163. Mikkelsen, M. and Vestermark, S. (1974) Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I. J. Med. Genet. 11, 389–392.

    CAS  PubMed Central  PubMed  Google Scholar 

  164. Olinici, C.D., Butnariu, J., Popescu, A., and Giurgiuman, M. (1977) Mosaic 45,XY, −21/46,XY in a child with G deletion syndrome I. Ann. Genet. 20, 115–117.

    CAS  PubMed  Google Scholar 

  165. Abeliovich, D., Carmi, R., Karplus, M., Bar-Ziv, J., and Cohen, M.M. (1979) Monosomy 21: a possible stepwise evolution of the karyotype. Am. J. Med. Genet. 4, 279–286.

    CAS  PubMed  Google Scholar 

  166. Ghidini, A., Fallet, S., Robinowitz, J., Lockwood, C., Dische, R., and Willner, J. (1993) Prenatal detection of monosomy 21 mosaicism. Prenat. Diagn. 13, 163–169.

    CAS  PubMed  Google Scholar 

  167. Wisniewski, K., Dambska, M., Jenkins, E.C., Sklower, S., and Brown, W.T. (1983) Monosomy 21 syndrome: further delineation including clinical, neuropathological, cytogenetic and biochemical studies. Clin. Genet. 23, 102–110.

    CAS  PubMed  Google Scholar 

  168. Pellissier, M.C., Philip, N., Voelckel-Baeteman, M.A., Mattei, M.G., and Mattei, J.F. (1987) Monosomy 21: a new case confirmed by in situ hybridization. Hum. Genet. 75, 95–96.

    CAS  PubMed  Google Scholar 

  169. Garzicic, B., Guc-Scekic, M., Pilic-Radivojevic, G., Ignjatovic, M., and Vilhar, N. (1988) A case of monosomy 21. Ann. Genet. 31, 247–249.

    CAS  PubMed  Google Scholar 

  170. West, B.R. and Allen, E.F. (1998) Another previously described 21 monosomy case turns out to be an unbalanced translocation. Am. J. Med. Genet. 75, 438.

    CAS  PubMed  Google Scholar 

  171. Moghe, M.S., Patel, Z.M., Peter, J.J., and Ambani, L.M. (1981) Monosomy 22 with mosaicism. J. Med. Genet. 18, 71–73.

    CAS  PubMed Central  PubMed  Google Scholar 

  172. Verloes, A., Herens, C., Lambotte, C., and Frederic, J. (1987) Chromosome 22 mosaic monosomy (46,XY/45,XY, −22). Ann. Genet. 30, 178–179.

    CAS  PubMed  Google Scholar 

  173. Lewinsky, R.M., Johnson, J.M., Lao, T.T., Winsor, E.J., and Cohen, H. (1990) Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow. Prenat. Diagn. 10, 605–608.

    CAS  PubMed  Google Scholar 

  174. Pinto-Escalante, D., Ceballos-Quintal, J.M., Castillo-Zapata, I., and Canto-Herrera, J. (1998) Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. Am. J. Med. Genet. 76, 150–153.

    CAS  PubMed  Google Scholar 

  175. Carr, D.H. and Gedeon, M. (1977) Population cytogenetics of human abortuses. In Population Cytogenetics (Hook E.B. and Porter I.H., eds.), Academic, New York, pp. 1–9.

    Google Scholar 

  176. Neuber, M., Rehder, H., Zuther, C., Lettau, R., and Schwinger, E. (1993) Polyploidies in abortion material decrease with maternal age. Hum. Genet. 91, 563–566.

    CAS  PubMed  Google Scholar 

  177. McFadden, D.E. and Kalousek, D.K. (1991) Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. Am. J. Med. Genet. 38, 535–538.

    CAS  PubMed  Google Scholar 

  178. Jacobs, P.A., Szulman, A.E., Funkhouser, J., Matsuura, J.S., and Wilson, C.C. (1982) Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann. Hum. Genet. 46, 223–231.

    CAS  PubMed  Google Scholar 

  179. McFadden, D.E., Kwong, L.C., Yam, I.Y., and Langlois, S. (1993) Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum. Genet. 92, 465–469.

    CAS  PubMed  Google Scholar 

  180. Dietzsch, E., Ramsay, M., Christianson, A.L., Henderson, B.D., and de Ravel, T.J.L. (1995) Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses. Am. J. Med. Genet. 58, 360–364.

    CAS  PubMed  Google Scholar 

  181. Uchida, I.A. and Freeman, V.C.P. (1985) Triploidy and chromosomes. Am. J. Obstet. Gynecol. 151, 65–69.

    CAS  PubMed  Google Scholar 

  182. Baumer, A., Balmer, D., Binkert, F., and Schinzel, A. (2000) Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur. J. Hum. Genet. 8, 911–917.

    CAS  PubMed  Google Scholar 

  183. Zaragoza, M.V., Surti, U., Redline, R.W., Millie, E., Chakravarti, A., and Hassold, T.J. (2000) Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am. J. Hum. Genet. 66, 1807–1820.

    CAS  PubMed Central  PubMed  Google Scholar 

  184. Gersen, S.L., Carelli, M.P., Klinger, K.W., and Ward, B.E. (1995) Rapid prenatal diagnosis of 14 cases of triploidy using FISH with multiple probes. Prenat. Diagn. 15, 1–5.

    CAS  PubMed  Google Scholar 

  185. Hall, J.G. (1990) Genomic imprinting: review and relevance to human diseases. Am. J. Hum. Genet. 46, 857–873.

    CAS  PubMed Central  PubMed  Google Scholar 

  186. Engel, E. and DeLozier-Blanchet, C.D. (1991) Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am. J. Med. Genet. 40, 432–439.

    CAS  PubMed  Google Scholar 

  187. McGrath, J. and Solter, D. (1984) Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 37, 179–183.

    CAS  PubMed  Google Scholar 

  188. Surani, M.A.H., Barton, S.C., and Norris, M.L. (1984) Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature. 308, 548–550.

    CAS  PubMed  Google Scholar 

  189. Surani, M.A.H., Barton, S.C., and Norris, M.L. (1986) Nuclear transplantation in the mouse: heritable differences between parental genomes after activation of the embryonic genome. Cell 45, 127–136.

    CAS  PubMed  Google Scholar 

  190. Niemann-Seyde, S.C., Rehder, H., and Zoll, B. (1993) A case of full triploidy (69,XXX) of paternal origin with unusually long survival time. Clin. Genet. 43, 79–82.

    CAS  PubMed  Google Scholar 

  191. Sherald, J., Bean, C., Bove, B., et al. (1986) Long survival in a 69,XXY triploid male. Am. J. Med. Genet. 25, 307–312.

    Google Scholar 

  192. Hasegawa, T., Harada, N., Ikeda, K., et al. (1999) Digynic triploid infant surviving for 46 days. Am. J. Med. Genet. 87, 306–310.

    CAS  PubMed  Google Scholar 

  193. Järvelä, I.E., Salo, M.K., Santavuori, P., and Salonen, R.K. (1993) 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. J. Med. Genet. 30, 966–967.

    PubMed Central  PubMed  Google Scholar 

  194. Tharapel, A.T., Wilroy, R.S., Martens, P.R., Holbert, J.M., and Summitt, R.L. (1983) Diploid-triploid mosaicism: delineation of the syndrome. Ann. Genet. 26, 229–233.

    CAS  PubMed  Google Scholar 

  195. Carakushansky, G., Teich, E., Ribeiro, M.G., Horowitz, D.D.G., and Pellegrini, S. (1994) Diploid/triploid mosaicism: further delineation of the phenotype. Am. J. Med. Genet. 52, 399–401.

    CAS  PubMed  Google Scholar 

  196. Dewald, G., Alvarez, M.N., Cloutier, M.D., Kelalis, P.P., and Gordon, H. (1975) A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin. Genet. 8, 149–160.

    CAS  PubMed  Google Scholar 

  197. Daniel, A., Wu, Z., Bennetts, B., et al. (2001) Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat. Diagn. 21, 1034–1048.

    CAS  PubMed  Google Scholar 

  198. Coe, S.J., Kapur, R., Luthardt, F., Rabinovitch, P., and Kramer, D. (1993) Prenatal diagnosis of tetraploidy: a case report. Am. J. Med. Genet. 45, 378–382.

    CAS  PubMed  Google Scholar 

  199. Lafer, C.Z. and Neu, R.L. (1988) A liveborn infant with tetraploidy. Am. J. Med. Genet. 31, 375–378.

    CAS  PubMed  Google Scholar 

  200. Wullich, B., Henn, W., Groterath, E., Ermis, A., Fuchs, S., and Zankl, M. (1991) Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly. Clin. Genet. 40, 353–357.

    CAS  PubMed  Google Scholar 

  201. Edwards, M.J., Park, J.P., Wurster-Hill, D.H., and Graham J.M., Jr. (1994) Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy. Am. J. Med. Genet. 52, 324–330.

    CAS  PubMed  Google Scholar 

  202. Aughton, D.J., Saal, H.M., Delach, J.A., Rahman, Z.U., and Fisher, D. (1988) Diploid/tetraploid mosaicism in a live-born infant demonstrable only in the bone marrow: case report and literature review. Clin. Genet. 33, 299–307.

    CAS  PubMed  Google Scholar 

  203. Quiroz, E., Orozco, A., and Salamanca, F. (1985) Diploid-tetraploid mosaicism in a malformed boy. Clin. Genet. 27, 183–186.

    CAS  PubMed  Google Scholar 

  204. Wittwer, B.B. and Wittwer, H.B. (1985) Information about diploid-tetraploid mosaicism in a six-year-old male. Clin. Genet. 28, 567–568.

    CAS  PubMed  Google Scholar 

  205. Lorda-Sánchez, I., Villa, A., Urioste, M., et al. (1997) Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl. Am. J. Med. Genet. 68, 481–484.

    PubMed  Google Scholar 

  206. Fisher, A.M., Barber, J.C.K., Crolla, J.A., et al. (1993) Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am. J. Med. Genet. 47, 100–105.

    CAS  PubMed  Google Scholar 

  207. Schrander-Stumpel, C.T.R.M., Govaerts, L.C.P., Engelen, J.J.M., et al. (1994) Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. Am. J. Med. Genet. 50, 377–380.

    CAS  PubMed  Google Scholar 

  208. Winters, J., Markello, T., Nance, W., and Jackson-Cook, C. (1995) Mosaic “tetrasomy” 8p: case report and review of the literature. Clin. Genet. 48, 195–198.

    CAS  PubMed  Google Scholar 

  209. Napoleone, R.M., Varela, M., and Andersson, H.C. (1997) Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature. Am. J. Med. Genet. 73, 330–333.

    CAS  PubMed  Google Scholar 

  210. Grass, F.S., Parke J.C., Jr., Kirkman, H.N., et al. (1993) Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. Am. J. Med. Genet. 47, 812–816.

    CAS  PubMed  Google Scholar 

  211. Melaragno, M.I., Brunoni, D., Patricio, F.R., et al. (1992). A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann. Genet. 35, 79–84.

    CAS  PubMed  Google Scholar 

  212. Leichtman, L.G., Zackowski, J.L., Storto, P.D., and Newlin, A. (1996) Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p. Am. J. Med. Genet. 63, 434–437.

    CAS  PubMed  Google Scholar 

  213. Tonk, V.S. (1997) Moving towards a syndrome: a review of 20 cases and a new case of nonmosaic tetrasomy 9p with long-term survival. Clin. Genet. 52, 23–29.

    CAS  PubMed  Google Scholar 

  214. Cuoco, C., Gimelli, G., Pasquali, F., et al. (1982) Duplication of the short arm of chromosome 9. Analysis of five cases. Hum. Genet. 61, 3–7.

    CAS  PubMed  Google Scholar 

  215. Peters, J., Pehl, C., Miller, K., and Sandlin, C. (1982) Case report of mosaic partial tetrasomy 9p mimicking Klinefelter syndrome. Birth Defects 18, 287–293.

    CAS  PubMed  Google Scholar 

  216. Calvieri, F., Tozzi, C., Benincori, C., et al. (1988) Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations. Eur. J. Pediatr. 147, 645–648.

    CAS  PubMed  Google Scholar 

  217. Papenhausen, P., Riscile, G., Miller, K., Kousseff, B., and Tedescto, T. (1990) Tissue limited mosaicism in a patient with tetrasomy 9p. Am. J. Med. Genet. 37, 388–391.

    CAS  PubMed  Google Scholar 

  218. Pallister, P.D., Meisner, L.F., Elejalde, B.R., et al. (1977) The Pallister mosaic syndrome. Birth Defects: Original Article Series. 3B, 103–110.

    Google Scholar 

  219. Killian, W. and Teschler-Nicola, M. (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd. Ident. 7, 6–17.

    Google Scholar 

  220. Bielanska, M.M., Khalifa, M.M., and Duncan, A.M.V. (1996) Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am. J. Med. Genet. 65, 104–108.

    CAS  PubMed  Google Scholar 

  221. Reynolds, J.F., Daniel, A., Kelly, T.E., et al. (1987) Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am. J. Med. Genet. 27, 257–274.

    CAS  PubMed  Google Scholar 

  222. Wenger, S.L., Steele, M.W., and Yu, W.D. (1988) Risk effect of maternal age in Pallister i (12p) syndrome. Clin. Genet. 34, 181–184.

    CAS  PubMed  Google Scholar 

  223. Schubert, R., Viersbach, R., Eggermann, T., Hansmann, M., and Schwanitz, G. (1997) Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. Am. J. Med. Genet. 72, 106–110.

    CAS  PubMed  Google Scholar 

  224. Struthers, J.L., Cuthbert, C.D., and Khalifa, M.M. (1999) Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Am. J. Med. Genet. 84, 111–115.

    CAS  PubMed  Google Scholar 

  225. Priest, J.H., Rust, J.M., and Fernhoff, P.M. (1992) Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis. Am. J. Med. Genet. 42, 820–824.

    CAS  PubMed  Google Scholar 

  226. Ward, B.E., Hayden, M.W., and Robinson, A. (1988) Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis. Am. J. Med. Genet. 31, 835–839.

    CAS  PubMed  Google Scholar 

  227. Wenger, S.L., Boone, L.Y., and Steele, M.W. (1990) Mosaicism in Pallister i(12p) syndrome. Am. J. Med. Genet. 35, 523–525.

    CAS  PubMed  Google Scholar 

  228. Peltomaki, P., Knuutila, S., Ritvanen, A., Kaitila, I., and de la Chapelle, A. (1987) Pallister-Killian syndrome: cytogenetic and molecular studies. Clin. Genet. 31, 399–405.

    CAS  PubMed  Google Scholar 

  229. Zakowski, M.F., Wright, Y., and Ricci, A., Jr. (1992) Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome). Am. J. Med. Genet. 42, 323–325.

    CAS  PubMed  Google Scholar 

  230. Speleman, F., Leroy, J.G., Van Roy, N., et al. (1991) Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. Am. J. Med. Genet. 41, 381–387.

    CAS  PubMed  Google Scholar 

  231. Reeser, S.L.T. and Wenger, S.L. (1992) Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome. Am. J. Med. Genet. 42, 815–819.

    CAS  PubMed  Google Scholar 

  232. Froland, A., Holst, G., and Terslev, E. (1963) Multiple anomalies associated with an extra small autosome. Cytogenetics 2, 99–106.

    CAS  PubMed  Google Scholar 

  233. Yu, L.C., Williams H., III, Wang, B.B.T., et al. (1993) Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization. Prenat. Diagn. 13, 355–361.

    CAS  PubMed  Google Scholar 

  234. Rivera, H., Moller, M., Hernandez, A., Enriquez-Guerra, M.A., Arreola, R., and Cantu, J.M. (1984) Tetrasomy 18p: a distinctive syndrome. Ann. Genet. 27, 187–189.

    CAS  PubMed  Google Scholar 

  235. Callen, D.F., Freemantle, C.J., Ringenbergs, M.L., et al. (1990) The Isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am. J. Hum. Genet. 47, 493–498.

    CAS  PubMed Central  PubMed  Google Scholar 

  236. Back, E., Toder, R., Voiculescu, I., Wildberg, A., and Schempp, W. (1994) De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting. Clin. Genet. 45, 301–304.

    CAS  PubMed  Google Scholar 

  237. Eggermann, T., Nothen, M.M., Eiben, B., et al. (1996) Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum. Genet. 97, 218–223.

    CAS  PubMed  Google Scholar 

  238. Boyle, J., Sangha, K., Dill, F., Robinson, W.P., and Yong, S.L. (2001) Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. Am. J. Med. Genet. 101, 65–69.

    CAS  PubMed  Google Scholar 

  239. Göcke, H., Muradow, I., Zerres, K., and Hansmann, M. (1986) Mosaicism of isochromosome 18p: cytogenetic and morphological findings in a male fetus at 21 weeks. Prenat. Diagn. 6, 151–157.

    PubMed  Google Scholar 

  240. Taylor, K.M., Wolfinger, H.L. Brown, M.G., and Chadwick, D.L. (1975) Origin of a small metacentric chromosome: familial and cytogenetic evidence. Clin. Genet. 8, 364–369.

    CAS  PubMed  Google Scholar 

  241. Takeda, K., Okamura, T., and Hasegawa, T. (1989) Sibs with tetrasomy 18p born to a mother with trisomy 18p. J. Med. Genet. 26, 195–197.

    CAS  PubMed Central  PubMed  Google Scholar 

  242. Abeliovich, D., Dagan, J., Levy, A., Steinberg, A., and Zlotogora, J. (1993) Isochromosome 18p in a mother and her child. Am. J. Med. Genet. 46, 392–393.

    CAS  PubMed  Google Scholar 

  243. Nielsen, J. and Wohlert, M. (1991) Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum. Genet. 87, 81–83.

    CAS  PubMed  Google Scholar 

  244. Sachs, E.S., Van Hemel, J.O., Den Hollander, J.C., and Jahoda, M.G.J. (1987) Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat. Diagn. 7, 81–89.

    CAS  PubMed  Google Scholar 

  245. Blennow, E., Bui, T-H., Kristoffersson, U., et al. (1994) Swedish survey on extra structurally abnormal chromosomes in 39,105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization. Prenat. Diagn. 14, 1019–1028.

    CAS  PubMed  Google Scholar 

  246. Brondum-Nielsen, K. and Mikkelsen, M. (1995) A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat. Diagn. 15, 615–619.

    CAS  PubMed  Google Scholar 

  247. Crolla, J.A. (1998) FISH and molecular studies of autosomal supernumrary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am. J. Med. Genet. 75, 367–381.

    CAS  PubMed  Google Scholar 

  248. Callen, D.F., Eyre, H.J., Ringenbergs, M.L., Freemantle, C.J., Woodroffe, P., and Haan, E.A. (1991) chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics. Am. J. Hum. Genet. 48, 769–782.

    CAS  PubMed Central  PubMed  Google Scholar 

  249. Blennow, E., Nielsen, K.B., Telenius, H., et al. (1995) Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am. J. Med. Genet. 55, 85–94.

    CAS  PubMed  Google Scholar 

  250. Masuno, M., Imaizumi, K., Ishii, T., Kimura, J., and Kuroki, Y. (1999) Supernumerary ring chromosome 5 identified by FISH. Am. J. Med. Genet. 84, 381.

    CAS  PubMed  Google Scholar 

  251. Buckton, K.E., Spowart, G., Newton, M.S., and Evans, H.J. (1985) Forty four probands with an additional “marker” chromosome. Hum. Genet. 69, 353–370.

    CAS  PubMed  Google Scholar 

  252. Leana-Cox, J., Jenkins, L., Palmer, C.G., et al. (1994) Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications. Am. J. Hum. Genet. 54, 748–756.

    CAS  PubMed Central  PubMed  Google Scholar 

  253. Cheng, S-D., Spinner, N.B., Zackai, E.H., and Knoll, J.H.M. (1994) Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am. J. Hum. Genet. 55, 753–759.

    CAS  PubMed Central  PubMed  Google Scholar 

  254. Crolla, J.A., Harvey, J.F., Sitch, F.L., and Dennis, N.R. (1995) Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum. Genet. 95, 161–170.

    CAS  PubMed  Google Scholar 

  255. Wisniewski, L.P., Witt, M.E., Ginsberg-Fellner, F., Wilner, J., and Desnick, R.J. (1980) Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin. Genet. 18, 42–47.

    CAS  PubMed  Google Scholar 

  256. Ledbetter, D.H., Mascarello, J.T., Riccardi, V.M., Harper, V.D., Airhart, S.D., and Strobel, R.J. (1982) Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am. J. Hum. Genet. 34, 278–285.

    CAS  PubMed Central  PubMed  Google Scholar 

  257. Mattei, J.F., Mattei, M.G., and Giraud, F. (1983) Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases. Hum. Genet. 64, 356–362.

    CAS  PubMed  Google Scholar 

  258. Robinson, W.P., Wagstaff, J., Bernasconi, F., et al. (1993) Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J. Med. Genet. 30, 756–760.

    CAS  PubMed Central  PubMed  Google Scholar 

  259. Spinner, N.B., Zackai, E., Cheng, S.D., and Knoll, J.H. (1995) Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. Am. J. Med. Genet. 57, 61–65.

    CAS  PubMed  Google Scholar 

  260. Schinzel, A., Schmid, W., Fraccaro, M., et al. (1981) The “cat eye syndrome”: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum. Genet. 57, 148–158.

    CAS  PubMed  Google Scholar 

  261. McDermid, H.E., Duncan, A.M., Brasch, K.R., et al. (1986) Characterization of the supernumerary chromosome in cat eye syndrome. Science 232, 646–648.

    CAS  PubMed  Google Scholar 

  262. Liehr, T., Pfeiffer, R.A., and Trautmann, U. (1992) Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. Clin. Genet. 42, 91–96.

    CAS  PubMed  Google Scholar 

  263. Mears, A.J., El-Shanti, H., Murray, J.C., McDermid, H.E., and Patil, S.R. (1995) Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am. J. Hum. Genet. 57, 667–673.

    CAS  PubMed Central  PubMed  Google Scholar 

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  1. Genzyme Genetics, Pasadena, CA

    Jin-Chen C. Wang MD

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  1. AmeriPath Inc., USA

    Steven L. Gersen PhD

  2. School of Allied Health Professions, University of Connecticut, Storrs, CT

    Martha B. Keagle MEd

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Wang, JC.C. (2005). Autosomal Aneuploidy. In: Gersen, S.L., Keagle, M.B. (eds) The Principles of Clinical Cytogenetics. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-833-1:133

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