Cytogenetic Aspects of Brain Dysfunction

  • Lillian Y. F. Hsu
  • Kurt Hirschhorn


The demonstration of the normal human chromosomal complement by Tjio and Levan in 1956(1) opened a new field of human genetics, i.e., Cytogenetics. (A normal male karyotype, 46,XY,* is shown in Fig. 1.) The rapid progress in human Cytogenetics during the past 15 years has resulted not only in delineation of a wide variety of syndromes but also in demonstration of the causal relationship between various chromosomal abnormalities and phenotypic manifestations. Mental retardation is a constant and obvious finding in all autosomal unbalanced aberrations. In sex chromosome aberrations, mental deficiency, although frequently found in individuals with greater than normal numbers of X or Y chromosomes, occurs to a lesser degree than in autosomal aberrations. This difference is now understandable on the basis that only one X chromosome is genetically active in somatic cells and any extra X chromosome material in excess of one is inactivated during early life.(2)


Brain Dysfunction Pericentric Inversion Group Chromosome Amniotic Fluid Cell Autosomal Trisomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    J. H. Tjio and A. Levari, The chromosome number of man, Heriditas 42:1–6, 1956.Google Scholar
  2. 2.
    M. F. Lyon, X-chromosome inactivation in mammals, Advan. Teratol. 1:25–54, 1966.Google Scholar
  3. 3.
    F. Sergovich, G. H. Valentine, A. T. L. Chen, R. A. H. Kinch, and M. S. Smout, Chromosome aberrations in 2159 consecutive newborn babies, New Engl. J. Med. 280:851–855, 1969.Google Scholar
  4. 4.
    H. A. Lubs and F. H. Ruddle, Chromosomal abnormalities in the human population: Estimation of rates based on New Haven new born study, Science 169:495–497, 1970.Google Scholar
  5. 5.
    S. G. Ratcliffe, A. L. Stewart, M. M. Melville, P. A. Jacobs, and A. J. Keay, Chromosome studies of 3500 newborn male infants, Lancet 1:121–122, 1970.Google Scholar
  6. 6.
    S. Walzer, G. Breau, and P. S. Gerald, A chromosome survey of 2400 normal newborn infants, J. Pediat. 74:438–448, 1969.Google Scholar
  7. 7.
    M. J. Mannello, R. A. Berkson, J. A. Edwards, and R. M. Bannerman, A study of the XYY syndrome in tall men and juvenile delinquents, J.A.M.A. 224:369–370, 1969.Google Scholar
  8. 8.
    The National Institute of Mental Health, Report on the XYY Chromosomal Abnormality, Public Health Service Publication No. 2103, October 1970.Google Scholar
  9. 9.
    W. M. Court Brown, Human population Cytogenetics, in “Frontiers of Biology” (A. Neuberger and E. L. Tatum, eds.), Vol. 5, North-Holland Research Monographs, North-Holland Publishing Co., Amsterdam, 1967.Google Scholar
  10. 10.
    N. Maclean, D. G. Harnden, W. M. Court Brown, J. Bond, and D. J. Mantle, Sex chromosome abnormalities in new born babies, Lancet 1:286–290, 1964.Google Scholar
  11. 11.
    M.L. Barr, F.R. Sergovich, D.H. Carr, and E.L. Shaver, The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature, Can. Med. Ass. J. 101:247–258, 1969.Google Scholar
  12. 12.
    L. S. Penrose and G. F. Smith, “Down’s Anomaly,” Little, Brown Co., Boston, 1966.Google Scholar
  13. 13.
    P. E. Conen and B. Erkman, Frequency and occurrence of chromosomal syndromes. II. E-trisomy, Am. J. Hum. Genet. 18:387–388, 1966.Google Scholar
  14. 14.
    P. Conen and B. Erkman, Frequency and occurrence of chromosomal syndromes. I. D-trisomy, Am. J. Hum. Genet. 18:374–386, 1966.Google Scholar
  15. 15.
    A. T. Taylor, Autosomal trisomy syndrome: A detailed study of 27 cases of Edwards’ syndrome and 27 cases of Patau’s syndrome, J. Med. Genet. 5:227–252, 1968.Google Scholar
  16. 16.
    J. H. Heller, Human chromosome abnormalities as related to physical and mental dysfunction, J. Hered. 60:239–248, 1969.Google Scholar
  17. 17.
    N. Maclean and J. M. Mitchell, A survey of sex chromosome abnormalities among 4514 mental defectives, Lancet 1:293–296, 1962.Google Scholar
  18. 18.
    W. M. Court Brown, Sex chromosome aneuploidy in man and its frequency, with special reference to mental subnormality and criminal behavior, Internat. Rev. Exptl. Pathol. 7:31–97, 1969.Google Scholar
  19. 19.
    J. Lejeune, M. Gautier, and R. Turpin, Etude des chromosomes somatiques de neuf enfants mongoliens, Compl. Rend. Acad. Sci. 248:1721–1722, 1959.Google Scholar
  20. 20.
    P. J. Waardenburg, Mongolismus, in “Das menschliche Auge und seine Erbanlagen.” Nijhoff, The Hague, 1932.Google Scholar
  21. 21.
    C. B. Bridges, Non-disjunction as a proof of the chromosome theory of heredity, Genetics 1:1–52, 107–163, 1916.Google Scholar
  22. 22.
    W. R. Breg, Autosomal abnormalities, mongolism (Down’s syndrome), in “Endocrine and Genetic Diseases of Childhood” (L. I. Gardner, ed.), pp. 608–631, W. B. Saunders Co., Philadelphia, 1969.Google Scholar
  23. 23.
    K. Mikamo, Intrafollicular overripeness and teratologic development, Cytogenetics 7:212–233, 1968.Google Scholar
  24. 24.
    J. German, Mongolism, delayed fertilization and human sexual behavior, Nature 217:516–518, 1968.Google Scholar
  25. 25.
    P. J. Fialkow, Autoimmunity and chromosomal aberrations, Am. J. Hum. Genet. 18:93–108, 1966.Google Scholar
  26. 26.
    W. J. Schull and J. V. Neel, Maternal radiation and mongolism, Lancet 1:537–538, 1962.Google Scholar
  27. 27.
    A. Stoller and R. D. Collmann, Incidence of infective hepatitis followed by Down’s syndrome nine months later, Lancet 2:1221–1223, 1965.Google Scholar
  28. 28.
    M. Mikkelsen, Familial Down’s syndrome, Ann. Hum. Genet. 30:125–146, 1966.Google Scholar
  29. 29.
    D. Aarskog, Down’s syndrome transmitted through maternal mosaicism, Acta Paediat. Scand. 58:609–614, 1969.Google Scholar
  30. 30.
    L. Y. F. Hsu, M. Gertner, E. Leiter, and K. Hirschhorn, Paternal trisomy 21 mosaicism and Down’s syndrome, Am. J. Hum. Genet. 23:592–601, 1971.Google Scholar
  31. 31.
    B. Hall, Mongolism in newborn infants, an examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality, Clin. Pediat. 5:4–12, 1966.Google Scholar
  32. 32.
    D. W. Smith, “Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects,” Vol. VII of “Major Problems in Clinical Pediatrics,” W. B. Saunders Co., Philadelphia, 1970.Google Scholar
  33. 33.
    M. Alter, Dermatoglyphic analysis as a diagnostic tool, Medicine 46:35–56, 1967.Google Scholar
  34. 34.
    A. A. Baumeister and J. Williams, Relationship of physical stigmata to intellectual functioning in mongolism, Am. J. Ment. Defic. 71:586–592, 1967.Google Scholar
  35. 35.
    J. Warkany, E. Passarge, and L. B. Smith, Congenital malformations in autosomal trisomy syndrome, Am. J. Dis. Child. 112 502–517, 1966.Google Scholar
  36. 36.
    L. T. Hilliard and B. H. Kirman, “Mental Deficiency,” Little, Brown Co., Boston, 1965.Google Scholar
  37. 37.
    J. H. Edwards, D. G. Harnden, A. H. Cameron, V. M. Crosse, and O. H. Wolff, A new trisomic syndrome, Lancet 1:787–790, 1960.Google Scholar
  38. 38.
    J. J. Yunis, E. B. Hook, and M. Mayer, Deoxyribose-nucleic-acid replication pattern of trisomy 18, Lancet 2:286–287, 1964.Google Scholar
  39. 39.
    D. W. Smith, The 18 trisomy and D1 trisomy syndromes, in “Endocrine and Genetic Diseases of Childhood” (L. I. Gardner, ed.), pp. 639–652, W. B. Saunders Co., Philadelphia, 1969.Google Scholar
  40. 40.
    J. DeGrouchy, Chromosome 18: A topologie approach, J. Pediat. 66:414–431, 1965.Google Scholar
  41. 41.
    P. E. Polani, Autosomal imbalance and its syndromes, excluding Down’s, Brit. Med. Bull. 25:81–93, 1969.Google Scholar
  42. 42.
    W. W. Weber, Survival and the sex ratio in trisomy 17–18, Am. J. Hum. Genet. 19:369–377, 1967.Google Scholar
  43. 43.
    E. H. Heinrichs, S. W. Allen Jr., and P. S. Nelson, Simultaneous 18-trisomy and 21-trisomy cluster, Lancet 2:468, 1963.Google Scholar
  44. 44.
    N. Kardon, L. Y. Hsu, N. Beratis, and K. Hirschhorn, Trisomy 18, Lancet 2:782, 1970.Google Scholar
  45. 45.
    J. Nusbacher and K. Hirschhorn, Autosomal anomalies in man, Advan. Teratol. 3:1–63, 1968.Google Scholar
  46. 46.
    B. A. Kakulas, H. R. Trowell, G. J. Cullity, A. Hockey, and P. L. Master, The neuropathology of the 17–18 trisomy syndrome, Proc. Austral. Ass. Neurol. 5:189–195, 1968.Google Scholar
  47. 47.
    K. Patau, D. W. Smith, E. Therman, S. L. Inhorn, and H. P. Wagner, Multiple congenital anomaly caused by an extra chromosome, Lancet 1:790–793, 1960.Google Scholar
  48. 48.
    J. J. Yunis, E. B. Hook, and M. Mayer, Deoxyribonucleic-acid replication pattern of trisomy Dl, Lancet 2:935–937, 1964.Google Scholar
  49. 49.
    E. R. Huens, M. Lutzner, and F. Hecht, Nuclear abnormalities of the neutrophils in Dl (13–15)-trisomy syndrome, Lancet 1:589–590, 1964.Google Scholar
  50. 50.
    J. Q. Miller, E. H. Picard, M. K. Alkan, S. Warner, and P. S. Gerald, A specific congenital brain defect (arrhinencephaly) in 13–15 trisomy, New Engl. J. Med. 268:120–124, 1963.Google Scholar
  51. 51.
    I. A. Uchida, M. H. C. Wang, and M. Ray, Familial short arm deficiency of chromosome 18 concomitant with arrhinencephaly and alopecia congenita, Am. J. Hum. Genet. 17:410–419, 1965.Google Scholar
  52. 52.
    I. A. Uchida, M. Ray, K. N. McRae, and D. F. Besant, Familial occurrence of trisomy 22, Am. J. Hum. Genet. 20:107–118, 1968.Google Scholar
  53. 53.
    L. Y. F. Hsu, L. R. Shapiro, M. Gertner, E. Lieber, and K. Hirschhorn, Trisomy 22: A clinical entity, J. Pediat. 79:12–19, 1971.Google Scholar
  54. 54.
    K. H. Gustavson, B. Hagberg, S. C. Finley, and W. H. Finley, An apparently identical extra autosome in two severely retarded sisters with multiple malformations, Cytogenetics 1:32–41, 1962.Google Scholar
  55. 55.
    H. Zellweger, K. Mikamo, and G. Abbo, Two cases of non-mongoloid trisomy G, Ann. Paediat. 199:613–624, 1962.Google Scholar
  56. 56.
    M. d’A. Crawfurd, Multiple congenital anomaly associated with an extra autosome, Lancet 2:22–24, 1961.Google Scholar
  57. 57.
    J. Ishmael and K. M. Laurence, A probable case of incomplete trisomy of a chromosome of the 13–15 group, J. Med. Genet. 2:136–141, 1965.Google Scholar
  58. 58.
    J. Ferguson and D. Pitt, Another child with 47 chromosomes, Med. J. Austral. 1:546–547, 1963.Google Scholar
  59. 59.
    B. Hall, Mongolism and other abnormalities in a family with trisomy 21–22 tendency, Acta Paediat. Suppl. 146:77–91, 1963.Google Scholar
  60. 60.
    R. L. Neu and T. Kajii, Other autosomal abnormalities, in “Endocrine and Genetic Diseases of Childhood” (L. I. Gardner, ed.), pp. 652–667, W. B. Saunders Co., Philadelphia, 1969.Google Scholar
  61. 61.
    A. K. Sinha, Presumptive trisomy for human chromosome number 3, Acta Genet. Statist. Med. (Acta Genet.) 18:584–592, 1968.Google Scholar
  62. 62.
    K. H. Gustavson, B. Hagberg, and B. Santesson, Mosaic trisomy of an autosome in the 6–12 group in a patient with multiple congenital anomalies, Acta Paediat. Scand. 56:681–686, 1967.Google Scholar
  63. 63.
    M. Higurashi, M. Naganuma, I. Matsui, and S. Kamoshita, Two cases of trisomy C 6–12 mosaicism with multiple congenital malformations, J. Med. Genet. 6:429–434, 1969.Google Scholar
  64. 64.
    G. J. Bargman, R. L. Neu, T. Kajii, J. Carneiro Leao, and L. I. Gardner, Trisomy C mosaicism in à seven month old girl, Humangenetik 4:13–17, 1967.Google Scholar
  65. 65.
    J. Gagnon, N. Katyk-Longtin, J. A. de Groot, and A. Barbeau, Double trisomie auto-somique à 48 chromosomes (21 + 18), Union Med. Can. 90:1220–1226, 1961.Google Scholar
  66. 66.
    K. H. Gustavson, B. I. Ivemark, P. Zetterqvist, and J. A. Book, Postmortem diagnosis of a new double trisomy associated with cardiovascular and other anomalies, Acta Paediat. 51:686–697, 1962.Google Scholar
  67. 67.
    K. L. Becker, E. C. Burke, and A. Albert, Double autosomal trisomy (D trisomy plus mongolism), Proc. Mayo Clin. 38:242–248, 1963.Google Scholar
  68. 68.
    L. Y. F. Hsu, A. J. Schwager, I. Nemhauser, and E. H. Sobel, A case of double autosomal trisomy with mosaicism: 48/XX (trisomy 18 + 21) and 46/XX, J. Pediat, 66:1055–1060, 1965.Google Scholar
  69. 69.
    H. Zellweger and G. Abbo, Double trisomy and double trisomic mosaicism, Am. J. Dis. Child. 113:329–337, 1967.Google Scholar
  70. 70.
    I. H. Porter, W. Petersen, and C. D. Brown, Case report, double autosomal trisomy (trisomy D + G) with mosaicism, J. Med. Genet. 6:347–348, 1969.Google Scholar
  71. 71.
    M. Tolksdorf, W. Lehmann, H. G. Hansen, and H. R. Wiedemann, Edwards-Syndrom mit aussergewöhnlichem Befund, Z. Kinderheilk. 93:55–63, 1965.Google Scholar
  72. 72.
    A. G. Baikie, O. M. Garson, and R. G. Birrell, Mosaicism for trisomy 17–18 and trisomy 13–15 in man, Nature 207:1419–1420, 1965.Google Scholar
  73. 73.
    F. Hecht, J. Nievaard, N. Duncanson, J. R. Miller, J. V. Higgins, W. J. Kimberling, F. A. Walker, G. S. Smith, H. C. Thuline, and B. Tischler, Double aneuploidy: The frequency of XXY in males with Down’s syndrome, Am. J. Hum. Genet. 21:352–359, 1969.Google Scholar
  74. 74.
    B. W. Richards, Mosaic mongolism, J. Ment. Defic. Res. 13:66–83, 1969.Google Scholar
  75. 75.
    G. Kohn, K. Taysi, T. E. Atkins, and W. J. Mellman, Mosaic mongolism. I. Clinical correlations, J. Pediat. 76:874–879, 1970.Google Scholar
  76. 76.
    K. Taysi, G. Kohn, and W. J. Mellman, Mosaic mongolism. II. Cytogenetic studies, J. Pediat. 76:880–885, 1970.Google Scholar
  77. 77.
    J. Warkany, E. D. Weinstein, S. W. Soukup, J. H. Rubinstein, and M. C. Curless, Chromosome analyses in a children’s hospital: Selection of patients and results of studies, Pediatrics 33:291–305, 454–455, 1964.Google Scholar
  78. 78.
    R. L. Neu, G. J. Bargman, and L. I. Gardner, Disappearance of a 47,XX,C + leukocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C + mosaicism, Pediatrics 43:624–626, 1969.Google Scholar
  79. 79.
    R. D. Schmickel, E. M. Silverman, A. D. Floyd, F. E. Payne, J. M. Pooley, and M. L. Beck, A live-born infant with 69 chromosomes, J. Pediat. 79:97–103, 1971.Google Scholar
  80. 80.
    A. N. Schindler and K. Mikamo, Triploidy in man: Report of a case and discussion on etiology, Cytogenetics 9:116–130, 1970.Google Scholar
  81. 81.
    A. D. Vickers, Delayed fertilization and chromosomal anomalies in mouse embryos, J. Reprod. Fert. 20:69–76, 1969.Google Scholar
  82. 82.
    J. T. Lanman, Delays during reproduction and their effects on the embryo and fetus, 2. Aging of eggs, New Engl. J. Med. 278:1047–1054. 1968.Google Scholar
  83. 83.
    M. S. Al-Aish, F. de la Cruz, L. A. Goldsmith, J. Volpe, G. Mella, and J. C. Robinson, Autosomal monosomy in man: Complete monosomy G (21–22) in a four and one half year old mentally retarded girl, New Engl. J. Med. 277:777–784, 1967.Google Scholar
  84. 84.
    B. Hall, K. Fredga, and N. Svenningsen, A case of monosomy G?, Heriditas 57:356–364, 1967.Google Scholar
  85. 85.
    D. N. Challacombe and A. Taylor, Monosomy for a G autosome, Arch. Dis. Child. 44:113–119, 1969.Google Scholar
  86. 86.
    J. G. Boue and A. Boue, Les aberrations chromosomiques dans les avortements spontanés humains, Compt. Rend. Acad. Sci. (D) (Paris) 263:2054–2058, 1966.Google Scholar
  87. 87.
    D. T. Arakaki and S. H. Waxman, Chromosome abnormalities in early spontaneous abortions, J. Med. Genet. 7:118–124, 1970.Google Scholar
  88. 88.
    J. Lejeune, T. LaFourcade, R. Berger, J. Vialatte, M. Boeswillwold, P. Seringe, and R. Turpin, Trois cas de délétion partielle des bras courts d’un chromosome 5, Compt. Rend. Acad. Sci. 257:3098–3102, 1963.Google Scholar
  89. 89.
    J. German, J. Lejeune, M. N. Maclntyre, and J. DeGrouchy, Chromosomal autoradiography in the cri du chat syndrome, Cytogenetics 3:347–352, 1964.Google Scholar
  90. 90.
    W. R. Breg, Cri du chat syndrome, in “Endocrine and Genetic Diseases of Childhood” (L. I. Gardner, ed.), pp. 632–638, W. B. Saunders Co., Philadelphia, 1969.Google Scholar
  91. 91.
    A. De Capoa, D. Warburton, W. R. Breg, D. A. Miller, and O. J. Miller, Translocation heterozygosis: A cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families, Am. J. Hum. Genet. 19:586–603, 1967.Google Scholar
  92. 92.
    H. Grotsky, L. Y. F. Hsu, and K. Hirschhorn, A case of cri du chat associated with cataracts and transmitted from a mother with a 4/5 translocation, J. Med. Genet. 8:369–371, 1971.Google Scholar
  93. 93.
    D. Warburton, D. A. Miller, O. J. Miller, P. W. Allderdice, and A. De Capoa, Detection of minute deletions in human karyotypes, Cytogenetics 8:97–108, 1969.Google Scholar
  94. 94.
    P. H. Ward and E. Engel, The larynx in the cri du chat (cat cry) syndrome, Trans. Am. Acad. Ophthalmol. Otolaryngol. 72:90–102, 1968.Google Scholar
  95. 95.
    W. R. Breg, M. W. Steele, O. J. Miller, D. Warburton, A. De Capoa, and P. W. Allderdice, The cri du chat syndrome in adolescents and adults: Clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5 (5p —), J. Pediat. 77:782–791, 1970.Google Scholar
  96. 96.
    U. Wolf, H. Reinwein, R. Porsch, R. Schroter, and H. Baitsch, Defizienz an den kurzen Armen eines Chromosoms Nr. 4., Humangenetik 1:397–413, 1965.Google Scholar
  97. 97.
    K. Hirschhorn, H. L. Cooper, and I. L. Firschein, Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion, Humangenetik 1:479–482, 1965.Google Scholar
  98. 98.
    J. Carneiro Leao, G. J. Bargman, R. L. Neu, T. Kajii, and L. I. Gardner, New syndrome associated with partial deletion of short arms of chromosome No. 4, J.A.M.A. 202:434–437, 1967.Google Scholar
  99. 99.
    A. T. Taylor, D. N. Challacombe, and R. M. Howlett, Short-arm deletion chromosome 4 (4p-), a syndrome?, Ann. Hum. Genet. 34:137–144, 1970.Google Scholar
  100. 100.
    M. G. Wilson, J. W. Towner, and L. D. Negus, Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome No. 4, J. Med. Genet. 7:164–170, 1970.Google Scholar
  101. 101.
    A. R. Wilcock, F. G. Adams, P. Cooke, and R. R. Gordon, Deletion of short arm of No. 4 (4p-): A detailed case report, J. Med. Genet. 7:171–176, 1970.Google Scholar
  102. 102.
    D. Arias, E. Passarge, M. A. Engle, and J. German, Human chromosomal deletion: Two patients with the 4p- syndrome, J. Pediat. 76:82–88, 1970.Google Scholar
  103. 103.
    J. DeGrouchy, P. Royer, C. Salmon, and M. Lamy, Délétion partielle des bras longs du chromosome 18, Pathol. Biol. 12:579–582, 1964.Google Scholar
  104. 104.
    W. Wertelecki, A. M. Schindler, and P. S. Gerald, Partial deletion of chromosome 18, Lancet 2:641, 1966.Google Scholar
  105. 105.
    J. M. Stewart, S. Go, E. Ellis, and A. Robinson, Absent IgA and deletions of chromosome 18, J. Med. Genet. 7:11–19, 1970.Google Scholar
  106. 106.
    P. W. Allderdice, J. G. Davis, O. J. Miller, H. P. Klinger, D. Warburton, D. A. Miller, F. H. Allen, Jr., C. A. L. Abrams, and E. McGilvray, The 13q- deletion syndrome, Am. J. Hum. Genet. 21:499–512, 1969.Google Scholar
  107. 107.
    J. Lejeune, R. Berger, M. O. Rethore, L. Archambault, H. Jerome, S. Thieffry, J. Aicardi, M. Broyer, J. Lafourcade, J. Cruveiller, and R. Turpin, Monosomie partielle pour un petit acrocentrique, Compt. Rend. Acad. Sci. (Paris) 259:4187–4190, 1964.Google Scholar
  108. 108.
    L. E. Reisman, S. Kasahara, C. Y. Chung, A. Darnell, and B. Hall, Antimongolism. Studies in an infant with a partial monosomy of the 21 chromosome, Lancet 1:394–397, 1966.Google Scholar
  109. 109.
    L. S. Penrose, Antimongolism, Lancet 1:497, 1966.Google Scholar
  110. 110.
    P. Fischer, E. Golob, F. Friedrich, E. Kunze-Muhl, W. Doleschel, and H. Aichmair, Autosomal deletion syndrome. 46,XX,18p—: A new case report with absence of IgA in serum, J. Med. Genet. 7:91–98, 1970.Google Scholar
  111. 111.
    E. Lieber, K. Hirschhorn, W. Seegers, P. Allderdice, A. De Capoa, and O. J. Miller, An anomaly of chromosome 13 in four generations (Abst.), Annual Meeting of American Society of Human Genetics, December 1–3, Toronto, Canada.Google Scholar
  112. 112.
    L. Y. F. Hsu, M. Barcinski, L. R. Shapiro, E. Valderrama, M. Gertner, and K. Hirschhorn, Parental chromosomal aberrations associated with multiple abortions and an abnormal infant, Obstet. Gynecol. 36:723–730, 1970.Google Scholar
  113. 113.
    R. C. Juberg, M.’S. Adams, W. J. Venema, and M. G. Hart, Multiple congenital anomalies associated with a ring-D chromosome, J. Med. Genet. 6:314–321, 1969.Google Scholar
  114. 114.
    L. Y. F. Hsu and K. Hirschhorn, Unusual Turner mosaicism (45,X/47,XXX; 45,X/46, XXqi; 45,X/46,XXr): Detection through deceleration from normal linear growth and secondary amenorrhea, J. Pediat. 79:276–281, 1971.Google Scholar
  115. 115.
    E. Pergament, G. C. Pietra, T. Kadotani, H. Sato, and S. Berlow, A ring chromosome No. 16 in an infant with primary hypoparathyroidism, J. Pediat. 76:745–751, 1970.Google Scholar
  116. 116.
    H. Singer and N. S. Scaife, Simultaneous occurrence of ring “G” chromosome and group “B” pericentric inversion in the same individual: Case report and review of the literature, Pediatrics 46:74–83, 1970.Google Scholar
  117. 117.
    R. J. Warren and D. L. Rimoin, The G deletion syndromes, J. Pediat. 77:658–663, 1970.Google Scholar
  118. 118.
    K. P. Lele, T. Dent, and J. D. A. Delhanty, Chromosome studies in five cases of coloboma of the iris, Lancet 1:576–578, 1965.Google Scholar
  119. 119.
    A. Morishima, N. Liu, and M. M. Grumbach, Multiple congenital anomalies associated with probable pericentric inversion of chromosome No. 4 and mosaicism in an asymptomatic mother, J. Pediat. 65:1096–1097, 1964.Google Scholar
  120. 120.
    P. A. Jacobs, G. Cruickshank, M. J. W. Faed, A. Frackiewicz, E. B. Robson, H. Harris, and I. Sutherland, Pericentric inversion of a group C autosome: A study of three families, Ann. Hum. Genet. 31:219–230, 1967.Google Scholar
  121. 121.
    M. M. Cohen, V. J. Capraro, and N. Takagi, Pericentric inversion in a group D chromosome (13–15) associated with amenorrhea and gonadal dysgenesis, Ann. Hum. Genet. 30:313–323, 1967.Google Scholar
  122. 122.
    J. E. Gray, D. E. Mutton, and D. W. Ashby, Pericentric inversion of chromosome 21, Lancet 1:21–23, 1962.Google Scholar
  123. 123.
    C. D. Darlington, The origin of iso-chromosomes, J. Genet. 39:351–361, 1940.Google Scholar
  124. 124.
    J. Q. Miller, M. J. Rostafinski, and M. S. Hyde, A defective extra chromosome associated with clinical 17–18 trisomy syndrome, Pediatrics 36:135–138, 1965.Google Scholar
  125. 125.
    S. B. Lawton, G. R. Stoddard, and J. R. Seely, Familial 21/21 translocation, J. Pediat. 74:305–309, 1969.Google Scholar
  126. 126.
    J. Lejeune and R. Berger, Sur deux observations familiales de translocations complexes, Ann. Genet. 8:21–30, 1965.Google Scholar
  127. 127.
    M- Bartalos and H. B. Richardson, Jr., Aneusomy by recombination: A possible example involving the E18 chromosome, Acta Genet. Med. Gemellol. 18:117–124, 1969.Google Scholar
  128. 128.
    A. Brøgger, “Translocation in Human Chromosomes with Special Reference to Mental Retardation and Congenital Malformation,” Norwegian Monographs on Medical Science, Universitetsforlaget Trykningssentral Oslo, Norway, 1967.Google Scholar
  129. 129.
    S. B. Kontras, G. J. Currier, R. F. Cooper, and J. P. Ambuel, Maternal transmission of a 21/1 translocation associated with Down’s syndrome, J. Pediat. 69:635–639, 1966.Google Scholar
  130. 130.
    D. J. Mantle, P. Mitchell, K. Kucheria, and J. Wilson, A mentally retarded child with convulsions, agenesis of the corpus callosum, and a translocation involving chromosomes 2 and the B group, J. Med. Genet. 6:435–437, 1969.Google Scholar
  131. 131.
    K. Bender, H. Reinwein, L. Z. Gorman, and U. Wolf, Familiare 2/C— Translokation: 46, XY, t(2p-;Cp+) und 46, XX, Cp+, Humangenetik 8:94–104, 1969.Google Scholar
  132. 132.
    B. C. Clare Davison, J. Bedford, and W. Dunn, t(2q—;Dq +)in a mentally retarded female child, J. Med. Genet. 7:81–82, 1970.Google Scholar
  133. 133.
    D. H. Wurster, D. Hoefnagel, K. Benirschke, and F. H. Allen Jr., Placental chorangiomata and mental deficiency in a child with 2/15 translocation: 46, XX, t(2q-;15q+), Cytogenetics 8:389–399, 1969.Google Scholar
  134. 134.
    I. Subrt and H. Prchlikova, Double chromosomal aberration. Trisomy G and the balanced translocation t(3p-; 17q+), Humangenetik 8:111–114, 1969.Google Scholar
  135. 135.
    M. J. Thorburn, E. M. McNeil Smith-Read, and J. E. Peck, A translocation t(Bq+;Cq-) in a West Indian family and a report of a second family showing a possible long arm group B translocation, Brit. Med. Ass. 44:106–112, 1969.Google Scholar
  136. 136.
    E. Ganner, Eine Patientin mit Translokation 46, XX,t(Dq —;Bq+) und Neurofibromatose, Schwachsinn sowie Aortenisthmusstenose, Schweiz. Med. Wschr. 99:182–186, 1969.Google Scholar
  137. 137.
    A. McDermott, J. Insley, D. I. Rushton, and J. H. Edwards, Two familial translocations involving the 6–12 group. With meiotic studies in one, Teratology 1:135–152, 1968.Google Scholar
  138. 138.
    A. De Capoa, F. H. Allen Jr., A. P. Gold, R. Koenigsberger, and O. J. Miller, Case reports. Presumptive C/15 translocation and familial large Y identified by autoradiography, Brit. Med. Ass. 6:89–94, 1969.Google Scholar
  139. 139.
    H. H. Punnett, L. Pinsky, A. M. DiGeorge, and R.J. Gorlin, Familial reciprocal C/18 translocation, Am. J. Hum. Genet. 18:572–583, 1966.Google Scholar
  140. 140.
    R. A. Pfeiffer, J. Laermann, and H. L. Heidtmann, Reziproke Translocation zwischen einem Chromosom Nr. 21 (G1) und einem Chromosom der Gruppe C (C6), Helv. Paediat. Acta 22:558–564, 1967.Google Scholar
  141. 141.
    E. Orye and C. van Nevel, Familial D/E translocation, Humangenetik 6:191–199, 1968.Google Scholar
  142. 142.
    M. M. Cohen and R. G. Davidson, Down’s syndrome associated with a familial (21q—; 22q +) translocation, Cytogenetics 6:321–330, 1967.Google Scholar
  143. 143.
    J. L. Hamerton, V. A. Cowie, F. Giannelli, S. M. Briggs, and P. Polani, Differential transmission of Down’s syndrome (mongolism) through male and female translocation carriers, Lancet 2:956–958, 1961.Google Scholar
  144. 144.
    M. W. Shaw, Familial mongolism, Cytogenetics 1:141–179, 1962.Google Scholar
  145. 145.
    H. L. Nadler, Prenatal detection of genetic disorders, Advan. Hum. Genet. 3:1–37, 1972.Google Scholar
  146. 146.
    C. P. Swanson, “Cytology and Cytogenetics,” pp. 437–445, Macmillan Co., Ltd., London, 1960.Google Scholar
  147. 147.
    R. Turpin and J. Lejeune, Chromosome translocations in man, Lancet 1:616–617, 1961.Google Scholar
  148. 148.
    P. A. Jacobs and J. A. Strong, A case of human intersexuality having a possible XXY sex-determining mechanism, Nature 183:302–306, 1959.Google Scholar
  149. 149.
    M. A. Ferguson-Smith, Sex chromatin: Klinefelter’s syndrome and mental deficiency, in “The Sex Chromatin” (K. L. Moore, ed.), pp. 277–315, W. B. Saunders, Co., Philadelphia, 1966.Google Scholar
  150. 150.
    K. Hirschhorn and L. Y. Hsu, Sex chromosome mosaicism in individuals with a Y chromosome, Birth Defects: Orig. Art. Ser., Vol. V, No. 5, 12–23, 1969.Google Scholar
  151. 151.
    M. A. Ferguson-Smith, W. S. Mack, P. M. Ellis, M. Dickson, R. Sanger, and R. R. Race, Parental age and the source of the X chromosomes in XXY Klinefelter’s syndrome, Lancet 1:46, 1964.Google Scholar
  152. 152.
    Vital Statistics of the United States, 1960 Natality Characteristics, Vol. 1, Section 2, Government Printing Office, Washington, D. C., 1962.Google Scholar
  153. 153.
    A. Frøland, R. Sanger, and R. R. Race, Xg blood groups of 78 patients with Klinefelter’s syndrome and of some of their parents, J. Med. Genet. 5:161–164, 1968.Google Scholar
  154. 154.
    H. F. Klinefelter, E. C. Reifenstein Jr., and F. Albright, Syndrome characterized by gynecomastia, aspermatogenesis with A-leydigism and increased excretion of follicle-stimulating hormone, J. Clin. Endocrinol. 2:615–627, 1942.Google Scholar
  155. 155.
    J. B. Edlow, L. R. Shapiro, L. Y. E. Hsu, and K. Hirschhorn, Neonatal Klinefelter’s syndrome, Am. J. Dis. Child. 118:788–791, 1969.Google Scholar
  156. 156.
    J. Money, Two cytogenetic syndromes: Psychologic comparisons. I. Intelligence and specific-factor quotients, J. Psychiat. Res. 2:223–231, 1964.Google Scholar
  157. 157.
    M. Fraccaro, K. Kaijser, and J. Lindsten, A child with 49 chromosomes, Lancet 2:899–902 1960.Google Scholar
  158. 158.
    W. A. Zaleski, C. S. Houston, J. Pozsonyi, and K. L. Ying, The XXXXY chromosome anomaly: Report of three new cases and review of 30 cases from the literature, Cand. Med. Ass. J. 94:1143–1154, 1966.Google Scholar
  159. 159.
    L. R. Shapiro, L. Y. E. Hsu, M.E. Calvin, and K. Hirschhorn, XXXXY boy: A 15-monthold child with normal intellectual development, Am. J. Dis. Child. 119:79–81, 1970.Google Scholar
  160. 160.
    J. Herrmann, M. Schuster, F. A. Walker, E.F. White, J. M. Opitz, and G. M. ZuRhein, Fibrodysplasia ossificans progressiva and the XXXXY syndrome in the same sibship, Birth Defects: Orig. Art. Ser., Vol. V, No. 5, 43–49, 1969.Google Scholar
  161. 161.
    F. J. W. Lewis, A. Frøland, R. Sanger, and R. R. Race, Source of the X chromosomes in two XXXXY males, Lancet 2:589, 1964.Google Scholar
  162. 162.
    L. S. Penrose, Finger-print pattern and the sex chromosomes, Lancet 1:298–300, 1967.Google Scholar
  163. 163.
    P. A. Jacobs, A. G. Baikie, W. M. Court Brown, T. N. MacGregor, N. Maclean, and D. C. Harnden, Evidence for the existence of the human “super female,” Lancet 2:423–425, 1959.Google Scholar
  164. 164.
    L. Di Cagno and P. Franceschini, Feeblemindedness and XXXX karyotype, J. Ment. Defic. Res. 12:226–236, 1968.Google Scholar
  165. 165.
    M. I. K. Berkeley and M. J. W. Faed, A female with the 48,XXXX karyotype, J. Med. Genet. 7:83–85, 1970.Google Scholar
  166. 166.
    F. Sergovich, C. Uilenberg, and J. Pozsonyi, The 49,XXXXX chromosome constitution: Similarities to the 49,XXXXY condition, J. Pediat. 78:285–290, 1971.Google Scholar
  167. 167.
    E. Bergemann, Manifestation familiale du karyotype triplo-X communication préliminaire, J. Hum. Genet. 10:370–371, 1961.Google Scholar
  168. 168.
    A. A. Sandberg, G. F. Korpf, T. Ishihara, and T. S. Hauschka, An XYY human male, Lancet 2:488–489, 1961.Google Scholar
  169. 169.
    W. H. Price and P. A. Jacobs, The 47, XYY male with special reference to behavior, Seminars Psychol. 2:30–39, 1970.Google Scholar
  170. 170.
    P. A. Jacobs, M. Brunton, M. M. Melville, R. P. Brittain, and W. F. McClemont, Aggressive behavior, mental subnormality, and the XYY male, Nature 208:1351–1352, 1965.Google Scholar
  171. 171.
    C. E. Parker, J. Melnyk, and C. H. Fish, The XYY syndrome, Am. J. Med. 47:801–808, 1969.Google Scholar
  172. 172.
    P. A. Jacobs, W. H. Price, W. M. Court Brown, R. P. Brittain, and P. B. Whatmore, Chromosome studies on men in a maximum security hospital, Ann. Hum. Genet. 31:339–358, 1968.Google Scholar
  173. 173.
    M. D. Casey, C. E. Blank, D. R. K. Street, L. J. Segali, J. H. McDougall, P. J. McGrath, and J. L. Skinner, YY chromosomes and antisocial behavior, Lancet 2:859–860, 1966.Google Scholar
  174. 174.
    J. Melnyk, H. Thompson, A. J. Rucci, F. Vanasek, and S. Hayes, Failure of transmission of the extra chromosome in subjects with 47,XYY karyotype, Lancet 2:797–798, 1969.Google Scholar
  175. 175.
    R. B. Diasio and R. H. Glass, The Y chromosome in sperm of an XYY male, Lancet 2: 1318–1319, 1970.Google Scholar
  176. 176.
    M. D. Casey, L. J. Segali, D. R. K. Street, and C. E. Blank, Sex chromosome abnormalities in two state hospitals for patients requiring special security, Nature 209:641–642, 1966.Google Scholar
  177. 177.
    C. E. Ford, K. W. Jones, and P. E. Polani, A sex chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome), Lancet 1:711–713, 1959.Google Scholar
  178. 178.
    J. W. Shaffer, A specific cognitive deficit observed in gonadal aplasia (Turner’s syndrome), J. Clin. Psychol. 18:403–406, 1962.Google Scholar
  179. 179.
    D. Alexander, H. T. Walker Jr., and J. Money, Studies in direction sense. I. Turner’s syndrome, Arch. Gen. Psychiat. 10:337–339, 1964.Google Scholar
  180. 180.
    M. A. Ferguson-Smith, Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations, J. Med. Genet. 2:142–155, 1965.Google Scholar
  181. 181.
    M. R. Swift and K. Hirschhorn, Fanconi’s anemia: Inherited susceptibility to chromosome breakage in various tissues, Ann. Int. Med. 65:496–503, 1966.Google Scholar
  182. 182.
    J. German, R. Archibald, and D. Bloom, Chromosomal breakage in a rare and probably genetically determined syndrome of man, Science 148:506–507, 1965.Google Scholar
  183. 183.
    F. Hecht, R. D. Koler, D. A. Rigas, G. S. Dahnke, M. P. Case, V. Tisdale, and R. W. Miller, Leukemia and lymphocytes in ataxia telangiectasia, Lancet 2:1193, 1966.Google Scholar
  184. 184.
    V. A. McKusick, “Mendelian Inheritance in Man, Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes,” Johns Hopkins Press, Baltimore, 1968.Google Scholar
  185. 185.
    H. W. Kunz, Hypoplastic anemia with multiple congenital defects (Fanconi syndrome), Pediatrics 10:286–292, 1952.Google Scholar
  186. 186.
    D. Bloom, The syndrome of congenital telangiectatic erythema and stunted growth, J. Pediat. 68:103–113, 1966.Google Scholar
  187. 187.
    E. Boder and R. P. Sedgwick, Ataxia-telangiectasia: A review of 101 cases, Little Club Clin. Develop. Med. 8:110–118, 1963.Google Scholar
  188. 188.
    A. H. Eisen, G. Karpati, T. Laszlo, F. Andermann, J. P. Robb, and H. L. Bacal, Immunologic deficiency in ataxia telangiectasia, New Engl. J. Med. 272:18–22, 1965.Google Scholar
  189. 189.
    A. J. Ammann, W. A. Cain, K. Ishizaka, R. Hong, and R. A Good, Immunoglobulin E deficiency in ataxia-telangiectasia, New Engl. J. Med. 281:469–472, 1969.Google Scholar
  190. 190.
    D. Clark, The nervous system: Degenerative diseases of uncertain classification, in “Textbook of Pediatrics” (W. E. Nelson, V. C. Vaughan, and R. J. McKay, eds.), pp. 1301–1302, W. B. Saunders Co., Philadelphia, 1969.Google Scholar
  191. 191.
    H. Dosik, L. Y. Hsu, G. J. Todaro, S. L. Lee, K. Hirschhorn, E. S. Selirio, and A. A. Alter, Leukemia in Fanconi’s anemia: Cytogenetic and tumor virus susceptibility studies, Blood 36:341–352, 1970.Google Scholar
  192. 192.
    J. German and L. Pugliatti Crippa, Chromosomal breakage in diploid cell lines from Bloom’s syndrome and Fanconi’s anemia, Ann. Genet. 9:143–154, 1966.Google Scholar
  193. 193.
    T. Caspersson, L. Zech, and C. Johansson, Differential binding of alkylating fluorochromes in human chromosomes, Exptl. Cell Res. 60:315–319, 1970.Google Scholar
  194. 194.
    P. L. Pearson, M. Bobrow, and C. G. Vosa, Technique for identifying Y chromosome in human interphase nuclei, Nature 226:78–80, 1970.Google Scholar
  195. 195.
    M. Alter, Dermatoglyphic analysis as a diagnostic tool, Medicine 46:35–56, 1966.Google Scholar
  196. 196.
    R. L. Summitt, Cytogenetics in mentally defective children with anomalies: A controlled study, J. Pediat. 74:58–66, 1969.Google Scholar
  197. 197.
    R. F. Daly, Chromosome aberrations in 50 patients with idiopathic mental retardation and in 50 control subjects, J. Pediat. 77:444–453, 1970.Google Scholar
  198. 198.
    F. E. Arrighi and T. C. Hsu, Localization of heterochromatin in human chromosomes, Cytogenetics 10:81–86, 1971.Google Scholar
  199. 199.
    T. Caspersson, G. Lomakka, and L. Zech, The 24 fluorescence patterns of the human metaphase chromosomes—distinguishing characters and variability, Hereditas 67:89–102, 1971.Google Scholar
  200. 200.
    W. R. Breg, D. A. Miller, P. W. Allderdice, and O. J. Miller, Identification of human translocation chromosomes by quinacrine fluorescence, 41st Annual Meeting of the Society for Pediatric Research, April 30, 1971, Atlantic City, N. J., Abst. p. 122.Google Scholar
  201. 201.
    T. Caspersson, L. Zech, E. J. Modest, G. E. Foley, U. Wagh, and E. Simonsson, DNA-binding fluorochromes for the study of the organization of the metaphase nucleus, Exptl. Cell Res. 58:141–152, 1969.Google Scholar
  202. 202.
    P. R. Chernay, L. Y. F. Hsu, H. Streicher, and K. Hirschhorn, Human chromosome identification by differential staining: G Group (21–22-Y), Cytogenetics 10:219–224, 1971.Google Scholar
  203. 203.
    P. R. Chernay, L. Y. F. Hsu, and K. Hirschhorn, Human chromosome identification by differential staining, Ped. Res. 5:424, 1971.Google Scholar
  204. 204.
    A. T. Sumner, H. J. Evans, and R. A. Buckland, New technique for distinguishing between human chromosomes, Nature New Biol. 232:31–32, 1971.Google Scholar
  205. 205.
    A. T. L. Chen, F. R. Sergovich, J. S. McKim, M. L. Barr, and D. Gruber, Chromosome studies in full-term, low-birth-weight, mentally retarded patients, J. Pediat. 76:393–398, 1970.Google Scholar
  206. 206.
    D. M. Serr, L. Sachs, and M. Danon, Diagnosis of sex before birth using cells from the amniotic fluid, Bull. Res. Council Israel 58:137–138, 1955.Google Scholar
  207. 207.
    M. W. Steele and W. R. Breg Jr., Chromosome analysis of human amniotic fluid cells, Lancet 1:383–385, 1966.Google Scholar
  208. 208.
    C. B. Jacobson and R. H. Barter, Intrauterine diagnosis and management of genetic defects, Am. J. Obstet. Gynecol. 99:796–807, 1967.Google Scholar
  209. 209.
    H. L. Nadler, Antenatal detection of hereditary disorders, Pediatrics 42:912–918, 1968.Google Scholar
  210. 210.
    F. Lisgar, M. Gertner, S. Cherry, L. Y. Hsu, and K. Hirschhorn, Prenatal chromosome analysis, Nature 225:280–281, 1970.Google Scholar
  211. 211.
    M. Gertner, L. Y. F. Hsu, J. Martin, and K. Hirschhorn, The use of amniocentesis for prenatal genetic counseling, Bull. N.Y. Acad. Med. 46:916–921, 1970.Google Scholar
  212. 212.
    V. J. Freda, The Rh problem in obstetrics and a new concept of its management using amniocentesis and spectrophotometric scanning of amniotic fluid, Am. J. Obstet. Gynecol. 92:341–374, 1965.Google Scholar
  213. 213.
    P. Riis and F. Fuchs, Sex chromatin and antenatal sex diagnosis, in “The Sex Chromatin” (K. L. Moore, ed.), Chapter 13, pp. 220–228, W. B. Saunders Co., Philadelphia, 1966.Google Scholar
  214. 214.
    A. Rook, L. Y. F. Hsu, M. Gertner, and K. Hirschhorn, Identification of the Y and X chromosomes in amniotic fluid cells, Nature 230:53, 1971.Google Scholar

Copyright information

© Plenum Press, New York 1973

Authors and Affiliations

  • Lillian Y. F. Hsu
    • 1
  • Kurt Hirschhorn
    • 1
  1. 1.Department of Pediatrics, Division of Medical GeneticsThe Mount Sinai School of Medicine of the City University of New YorkNew YorkUSA

Personalised recommendations