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Numerical and Structural Chromosome Abnormalities

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Handbook of Teratology

Abstract

Within the past 15 years, the rapid progress in human cytogenetics has resulted not only in the delineation of a wide variety of syndromes, but also in the demonstration of a causal relationship between various chromosomal abnormalities and phenotypic manifestations. Multiple congenital abnormalities and mental retardation are an almost consistent finding in individuals with autosomal unbalanced aberrations and to a lesser frequency and degree in individuals with sex chromosomal abnormalities.

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References

  • Alberman, E., Polani, P. E., Fraser-Roberts, J. A., Spicer, C. C., Elliott, M., and Armstrong, E., 1972, Parental exposure to X-irradiation and Down’s syndrome, Ann. Hum. Genet. 36:195.

    Article  Google Scholar 

  • Alfi, O., Donnell, G. N., Crandall, B. F., Derencsenyi, A., and Menon, R., 1973, Deletion of the short arm of chromosome #9 (46,9p-): A new deletion syndrome Ann. Genet. 16:17.

    Google Scholar 

  • Alfi, O. S., Donnell, G. N., and Kramer, S. L., 1974, Partial trisomy of the long arm of chromosome No. 7, J. Med. Genet. 10:187.

    Article  Google Scholar 

  • Allderdice, P. W., and Miller, O. J., 1967, Chromosome behavior in human leukocyte cultures not exposed to colchicine or hypotonic solution, 6th Conference on Mammalian Cytology and Somatic Cell Genetics, Abstract, November 5, 1967, Asilomar, California.

    Google Scholar 

  • Allderdice, P. W., Davis, J. G., Miller, O. J., Klinger, H. P., Warburton, D., Miller, D. A., Allen, F. H., Jr., Abrams, C. A. L., and McGilvray, E., 1969, The 13q-deletion syndrome, Am. J. Hum. Genet. 21:499.

    Google Scholar 

  • Aller, V., Abrisqueta, J. A., Perez, A., Martin, M. A., Goday, C., and Del Mazo, J., 1975, A case of trisomy 8 mosaicism 47,XX,+8/46,XX, Clin. Genet. 7:232.

    Article  Google Scholar 

  • Arias, D., Passarge, E., Engle, M. A., and German, J., 1970, Human chromosomal deletion: Two patients with the 4p-syndrome, J. Pediatr. 76:82.

    Article  Google Scholar 

  • Arakaki, D. T., and Waxman, S. H., 1970, Chromosome abnormalities in early spontaneous abortions, J. Med. Genet. 7:118.

    Article  Google Scholar 

  • Arrighi, F. E., and Hsu, T. C., 1971, Localization of heterochromatin in human chromosomes, Cytogenetics 10:81.

    Article  Google Scholar 

  • Baccichetti, C., and Tenconi, R., 1974, A new case of trisomy for the short arm of #9 chromosome, J. Med. Genet. 10:296.

    Article  Google Scholar 

  • Ballesta, F., and Vehi, L., 1974, Partial trisomy of distal end of 3p, Ann. Genet. 17:290.

    Google Scholar 

  • Barr, M. L., Sergovich, F. R., Carr, D. H., and Shaver, E. L., 1969, The triplo-X female: An appraisal based on a study of 12 cases and a review of the literature, Can. Med. Assoc. J., 101:247.

    Google Scholar 

  • Bass, H. N., Crandall, B. F., and Sparkes, R. S., 1973, Probable trisomy 22 identified by fluorescent and trypsin-Giemsa banding, Ann. Genet. 16:189.

    Google Scholar 

  • Baumeister, A. A., and Williams, J., 1967. Relationship of physical stigmata to intellectual functioning in mongolism, Am. J. Ment. Defic. 71:586.

    Google Scholar 

  • Beratis, N. G., Hsu, L. Y. F., Kutinsky, E., and Hirschhorn, K., 1972, Stability of trisomic (47,18+) cells in long-term mosaic skin fibroblast culture, Can. J. Genet. Cytol. 14:869.

    Google Scholar 

  • van den Berghe, H., van Eygen, M., Fryns, J. P., Tanghe, W., and Verresen, H., 1973, Partial trisomy 1, karotype 46,XY, 12-, t(lq,12p)+, Humangenetik 18:225.

    Article  Google Scholar 

  • Bloom, A. D., 1972, Induced chromosomal aberrations in man, Adv. Hum. Genet. 2:99.

    Google Scholar 

  • Bobrow, M., and Madan, K., 1973, The effect of various banding procedures on human chromosomes, studied with acridine orange, Cytogenet. Cell Genet. 12:145.

    Article  Google Scholar 

  • Bobrow, M., Madan, K., and Pearson, P. L., 1972, Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9, Nature (London), New Biol. 238:122.

    Google Scholar 

  • Boué, J., Boué, A., and Lazar, P., 1975, Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions, Teratology 12:11.

    Article  Google Scholar 

  • Bowen, P., Ying, K. L., and Chung, G. S. H., 1974, Trisomy 9 mosaicism in a newborn infant with multiple malformations, J. Pediatr. 85:95.

    Article  Google Scholar 

  • Breg, W. R., 1969, Cri du chat syndrome, in: Endocrine and Genetic Diseases of childhood (L. I. Gardner, ed.), pp. 632–638, W. B. Saunders, Philadelphia, Pa.

    Google Scholar 

  • Buckton, K. E., Jacobs, P. A., Court-Brown, W. M., and Doll, R., 1972, A study of the chromosome damage persisting after X-ray therapy for ankylosing spondylitis, Lancet 2:676.

    Google Scholar 

  • Buder, L. J., Snodgrass, G. J. A. I., France, N. E., Russell, A., and Swain, V. A. J., 1969, True hermaphroditism or gonadal intersexuality, Arch. Dis. Child. 44:666.

    Article  Google Scholar 

  • Carr, D. H., 1970, Chromosome studies in selected spontaneous abortions: 1. Conception after oral contraceptives, Can. Med. Assoc. J. 103:343.

    Google Scholar 

  • Carr, D. H., 1971, Cytogenetics and malformation in abortions, Fed. Proc. 30:102.

    Google Scholar 

  • Caspersson, T., Farber, S., Foley, G. E., Kudynowski, J., Modest, E. J., Simonsson, E., Wahg, U., and Zech, L., 1968, Chemical differentiation along metaphase chromosomes, Exp. Cell Res. 49:219.

    Article  Google Scholar 

  • Caspersson, T., Zech, L., and Johansson, C., 1970a, Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents, Exp. Cell Res. 62:490.

    Article  Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C., and Modest, E. J., 1970b, Identification of human chromosomes by DNA-binding fluorescent agents, Chromosoma 30:215.

    Article  Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C., Lindsten, J., and Hulten, M., 1970c, Fluorescent staining of heteropycrotic chromosome regions in human interphase nuclei, Exp. Cell Res. 61:472.

    Article  Google Scholar 

  • Caspersson, T., Lomakka, G., and Zech, L., 1971a, The 24 fluorescence patterns of the human metaphase chromosome distinguishing characters and variability, Hereditas 67:89.

    Article  Google Scholar 

  • Caspersson, T., Hulten, M., Johasson, J., Lindsten, J., Thekelsen, A., and Zech, L., 1971b, Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaic, Heriditas 68:317.

    Article  Google Scholar 

  • Caspersson, T., Lindsten, J., Zech, L., Buckton, K. E., Price, W. H., 1972, Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques, J. Med. Genet. 9:1.

    Article  Google Scholar 

  • Cassidy, S. B., McGee, B. J., van Eys, J., Nance, W. E., and Engel, E., 1975, Trisomy 8 syndrome, Ped. 56:826.

    Google Scholar 

  • Chicago Conference, 1966, Standardization in human cytogenetics, Birth defects, Original Article Series, Vol. II, No. 2. The National Foundation-March of Dimes.

    Google Scholar 

  • Cleaver, J. E., 1969, Xeroderma pigmentosum: A human disease in which an initial stage of DNA repair is defective, Proc. Natl. Acad. Sci. U.S.A. 63:428.

    Article  Google Scholar 

  • Cohen, M. M., and Hirschhorn, R., 1971, Lysosomal and non-lysosomal factors in chemically induced chromosome breakage, Exp. Cell Res. 64:209.

    Article  Google Scholar 

  • Comings, D. E., Avelino, E., Okada, T. A., and Wyandt, H. E., 1973, The mechanism of C and G-banding chromosomes, Exp. Cell Res. 77:469.

    Article  Google Scholar 

  • Court Brown, W. M., 1967, Human population cytogenetics, North-Holland Research Monographs, Frontiers of Biology, Vol. 5 (A. Neuberger and E. L. Tatum, eds.), North-Holland Publishing Company, Amsterdam.

    Google Scholar 

  • Crandall, B. F., Muller, H. M., and Bass, H. N., 1973, Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding, A m. J. Ment. Defic.77.571

    Google Scholar 

  • Crandall, B. F., Bass, H. N., Marcy, S. M., Glovsky, M., and Fish, C. H., 1974, The trisomy 8 syndrome: Two additional mosaic cases, J. Med. Genet. 11:393.

    Article  Google Scholar 

  • Curtis, D. J., 1974, Acrocentric associations in mongol populations, Humangenetik 22:17.

    Article  Google Scholar 

  • Darlington, C. D., 1940, The origin of iso-chromosomes, J. Genet. 39:351.

    Article  Google Scholar 

  • Dev, V. G., Warburton, D., Miller, O. J., Miller, D. A., and Erlanger, B. F., 1972, Consistent pattern of binding of anti-adenosine antibodies to human metaphase chromosomes, Exp. Cell Res. 74:288.

    Article  Google Scholar 

  • Dhadial, R. K., Machin, A. M., and Tait, S. M., 1970, Chromosomal anomalies in spontaneously aborted human fetuses, Lancet 2:20.

    Article  Google Scholar 

  • Drets, M. E., and Shaw, M. W., 1971, Specific banding patterns of human chromosomes, Proc. Natl. Acad. Sci. U.S.A. 68:2073.

    Article  Google Scholar 

  • Dutrillaux, B., 1973, Nouveau système de marquage chromosomique: Les bandes T, Chromosoma 41:395.

    Article  Google Scholar 

  • Dutrillaux, B., and Lejeune, J., 1971, Sur une nouvelle technique d’analyse du caryotype humain, C.R. Acad. Sci. 272:2638.

    Google Scholar 

  • Dutrillaux, B., Grouchy, J. de, Finaz, C., and Lejeune, J., 1971, Mise en évidence de la structure fine des chromosomes humains par digestion enzymatique (pronase en particulier), C.R. Acad. Sci. 273:587.

    Google Scholar 

  • Dutrillaux, B., Jonasson, J., Lauren, K., Lejeune, J., Lindsten, J., Petersen, G. B., and Saldana-Garcia, P., 1973, An unbalanced 4ql21q translocation identified by the R but not the G and Q chromosome banding techniques, Ann. Genet. 16:11.

    Google Scholar 

  • Eisen, A. H., Karpati, G., Laszlo, T., Andermann, F., Robb, J. P., and Bacal, H. L., 1965, Immunologie deficiency in ataxia telangiectasia, N. Engl. J. Med. 272:18.

    Article  Google Scholar 

  • Ellison, J. R., and Barr, H. J., 1972, Quinacrine fluorescence of specific chromosome regions. Late replication and high A:T content in Samoaia leonensis, Chromosoma 36:375.

    Article  Google Scholar 

  • Evans, H. J., 1967, The nucleolus, virus infection and trisomy in man, Nature 214:361.

    Article  Google Scholar 

  • Fabricant, J. D., and Schneider, E. L., 1975, Maternal age effect: A mouse model, Proceeding of 10th International Congress of Gerontology, June, 1975, Jerusalem.

    Google Scholar 

  • Feingold, M., and Atkins, L., 1973, A case of trisomy 9, J. Med. Genet. 10:184.

    Article  Google Scholar 

  • Ferguson-Smith, M. A., 1965, Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations, J. Med. Genet. 2:142.

    Article  Google Scholar 

  • Fialkow, P. J., 1966, Autoimmunity and chromosomal aberrations, Am. J. Hum. Genet. 18:93.

    Google Scholar 

  • Finaz, C., and de Grouchy, J., 1971, Le caryotype humain après traitement par l’α-chymotrypsine, Ann Genet. 14:309.

    Google Scholar 

  • Fineman, R. M., Ablow, R. C., Howard, R. O., Albright, J., and Breg, W. R., 1975, Trisomy 8 mosaicism syndrome, Ped. 56:762.

    Google Scholar 

  • Francke, U., Kernahan, C., and Bradshaw, C., 1975, Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies, Humangenetik 26:343.

    Google Scholar 

  • Fried, K., Rosenblatt, M., Mundel, G., and Krikler, R., 1975, Mental retardation and congenital malformations associated with a ring chromosome 6, Clin. Genet. 7:192.

    Article  Google Scholar 

  • Friedrich, U., and Nielsen, J., 1973, Chromosome studies in 5,049 consecutive newborn children, Clin. Genet. 4:333.

    Article  Google Scholar 

  • Fryns, J. P., Verresen, H., Kerckvoorde, J. V., and Cassiman, J. J., 1974a, Partial Trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl, Humangenetik 24:241.

    Google Scholar 

  • Fryns, J. P., Berghe, H. V., Van Herck, G., and Cassiman, J. J., 1974b, Trisomy 12p due to familial l(12p-,6q+) translocation, Humangenetik 24:252.

    Google Scholar 

  • Furbetta, M., Rosi, G., Cossu, P., and Cao, A., 1975, A case of trisomy of the short arms of chromosome no. 4 with translocation t(4p21p;4q21q) in the mother, Humangenetik 26:87.

    Google Scholar 

  • Geneva Conference, 1966, Standardization of procedures for chromosome studies in abortion, Cytogenetics 5:361.

    Article  Google Scholar 

  • Gerald, P. S., and Walzer, S., 1970, Chromosome studies of normal newborn infants, in: Human Population Cytogenetics, Pfizer Medical Monographs No. 5 (P. A. Jacobs, W. H. Price, and P. Law, eds.), p. 143, Edinburgh University Press, Edinburgh, U.K.

    Google Scholar 

  • German, J., 1968, Mongolism, delayed fertilization and human sexual behavior, Nature 217:516.

    Article  Google Scholar 

  • German, J., 1972, Genes which increase chromosomal instability in somatic cells and predispose to cancer, in: Progress in Medical Genetics, Vol. VIII, (A. G. Steinberg and A. G. Beam, eds.), p. 61, Grune and Stratton, New York.

    Google Scholar 

  • de Grouchy, J., Royer, P., Salmon, C., and Lamy, M., 1964, Deletion partielle du bras long du chromosome 18, Pathol. Biol. 12:579.

    Google Scholar 

  • de Grouchy, J., Finaz, C., Roubin, M., and Roy, J., 1972, Deux translocations familiales survenues ensemble chez chacune de deux soeurs, l’une équilibrée, l’autre trisomique partielle 10q, Ann Genet. 15:85.

    Google Scholar 

  • Gustavson, K. H., Hitrec, V., and Santesson, B., 1972, Three non-mongoloid patients of similar phenotype with an extra G-like chromosome, Clin. Genet. 3:135.

    Article  Google Scholar 

  • Haddida, E., Marill, F. G., and Sayog, J., 1963, Xeroderma pigmentosum (a propos de 48 observations personnels), Ann. Dermatol. Syphiligr. 90:467.

    Google Scholar 

  • Hall, B., 1966, Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality, Clin. Pediatr. 5:4.

    Article  Google Scholar 

  • Hamerton, J. L., Briggs, J. M., Giannelli, F., and Carter, C. O., 1961, Chromosome studies in detection of parents with high risk of second child with Down’s syndrome, Lancet 2:788.

    Article  Google Scholar 

  • Hamerton, J. L., Giannelli, F., and Polani, P. E., 1965, Cytogenetics of Down’s syndrome (mongolism). I. Data on a consecutive series of patients referred for genetic counselling and diagnosis, Cytogenetics 4:171.

    Article  Google Scholar 

  • Hamerton, J. L., Ray, M., Abbott, J., Williamson, C., and Ducasse, G. C., 1972, Chromosome studies in a neonatal population, Can. Med. Assoc. J. 106:776.

    Google Scholar 

  • Hand, R., and German, J., 1975, Retarded DNA chain growth in Bloom’s syndrome, Proc. Natl. Acad. Sci. U.S.A., 72:758.

    Article  Google Scholar 

  • Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., and Neil, C. A., 1973, Trisomy 9 mosaicism with mutiple congenital anomalies, J. Med. Genet. 10:180.

    Article  Google Scholar 

  • Henderson, S. A., and Edwards, R. G., 1968, Chiasma frequency and maternal age in mammals, Nature 218:22.

    Article  Google Scholar 

  • Hirschhorn, K., and Cohen, M. M., 1968, Drug induced chromosomal aberrations, Ann. N.Y. Acad. Sci. 151:977.

    Google Scholar 

  • Hirschhorn, K., Cooper, H. L., and Firschein, L., 1965, Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion, Humangenetik 1:479.

    Google Scholar 

  • Hirschhorn, K., Lucas, M., and Wallace, I., 1973, Precise identification of various chromosomal abnormalities, Ann. Hum. Genet. 36:375.

    Article  Google Scholar 

  • Hobolth, N., Jacobsen, P., and Mikkelsen, M., 1974, Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother. J. Med. Genet. 10:299.

    Article  Google Scholar 

  • Holmberg, M., and Jonasson, J., 1973, Preferential location of X-ray induced chromosome breakage in the R-bands of human chromosomes, Heriditas 74:57.

    Article  Google Scholar 

  • Hook, E. B., 1973, Behavioural implications of the human XYY genotype, Science, 179:150.

    Article  Google Scholar 

  • Hook, E. B., and Kim, D. S., 1970, Prevalence of XYY and XXY karyotypes in 337 non-retarded young offenders, N. Engl. J. Med. 283:410.

    Article  Google Scholar 

  • Hsu, L. Y. F., and Hirschhorn, K., 1971, Sex chromosome aberrations, Proc. XIII. Int. Congr. Pediatr. 5:75.

    Google Scholar 

  • Hsu, L. Y. F., and Hirschhorn, K., 1972, Cytogenetic aspects of brain dysfunction, in: Biology of Brain Dysfunction (G. E. Gaull, ed.), Chapter 3, pp. 89–142, Plenum Press, New York.

    Google Scholar 

  • Hsu, L. Y. F., and Hirschhorn, K., 1974, Prenatal diagnosis of genetic disorders (A minireview), Life Sci. 14:2311.

    Article  Google Scholar 

  • Hsu, L. Y. F., and Hirschhorn, K., 1977, The trisomy 22 syndrome and cat eye syndrome, in: New Chromosomal Syndromes (J. Yunis, ed.), Academic Press, New York (in press).

    Google Scholar 

  • Hsu, L. Y. F., Hirschhorn, K., Goldstein, A., and Barcinski, M., 1970, Familial chromosomal mosaicism, genetic aspect, Ann. Hum. Genet. 33:343.

    Article  Google Scholar 

  • Hsu, L. Y. F., Shapiro, L. R., Gertner, M., Lieber, E., and Hirschhorn, K., 1971, Trisomy 22: A clinical entity, J. Pediatr. 79:12.

    Article  Google Scholar 

  • Hsu, L. Y. F., Kim, H. J., Sujansky, E., Kousseff, B. G., and Hirschhorn, K., 1973, Reciprocal translocation versus centric fusion between two no. 13 chromosomes, Cytogenet. Cell Genet. 12:235.

    Article  Google Scholar 

  • Hsu, L. Y. F., Kim, H. J., Paciuc, S., Steinfeld, L., and Hirschhorn, K., 1974, Non-fluorescent and non-heterochromatic Y chromosome in 45,X/46,XY mosaicism, Ann. Genet. 17:5.

    Google Scholar 

  • Hsu, L. Y. F., Yahr, F., Kim, H. J., Kerenyi, T., and Hirschhorn, K., 1977, 550 cases of prenatal cytogenetic diagnosis: Experience and prospects, Mt. Sinai J. Med. (Festschrift for Dr. Horace Hodes) (in press).

    Google Scholar 

  • Hustinx, Th. W. J., ter Haar, B. G. A., Scheres, J. M. J. C., and Rutten, F. J., 1974, Trisomy for the short arm of chromosome no. 10, Clin. Genet. 6:408.

    Article  Google Scholar 

  • Jacobs, P. A., and Strong, J. A., 1959, A case of human intersexuality having a possible XXY sex-determining mechanism, Nature 183:302.

    Article  Google Scholar 

  • Jacobs, P. A., Melville, M., Ratcliffe, S., Keay, A. J., and Syme, J., 1974a, A cytogenetic survey of 11,680 newborn infants, Ann. Hum. Genet. 37:359.

    Article  Google Scholar 

  • Jacobs, P., Buckton, K., Cunningham, C., and Newton, M., 1974b, An analysis of the break points of structural rearrangements in man, J. Med. Genet. 11:50.

    Article  Google Scholar 

  • Jacobsen, P., Mikkelsen, M., and Rosleff, F., 1974, The trisomy 8 syndrome: report of two further cases, Ann. Genet. 17:87.

    Google Scholar 

  • Jones, K. W., and Corneo, G., 1971, Location of satellite and homogeneous DNA sequences on human chromosomes, Nature (London), New Biol. 233:268.

    Article  Google Scholar 

  • Kim, H. J., Hsu, L. Y. F., Paciuc, S., Cristian, S., Quintana, A., and Hirschhorn, K., 1975, Cytogenetics of fetal wastage, New Eng. J. Med., 293:844.

    Article  Google Scholar 

  • Krmpotic, E., Rosenthal, I. M., Szego, K., and Bocian, M., 1971, Trisomy F (?20). Report of a 14q/F (?20) familial translocation, Ann. Genet. 14:291.

    Google Scholar 

  • Kucera, J., 1970, Down’s syndrome and infectious hepatitis, Lancet 1:569.

    Google Scholar 

  • Lanman, J. T., 1968, Delays during reproduction and their effects on the embryo and fetus. 2. Aging of eggs, N. Engl. J. Med. 278:1047.

    Article  Google Scholar 

  • Latt, S. A., 1973, Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes. Proc. Natl. Acad. Sci. U.S.A. 70:3395.

    Article  Google Scholar 

  • Latta, E., and Hoo, J. J., 1974, Trisomy of the short arm of chromosome 17, Humangenetik 23:213.

    Google Scholar 

  • Lauritsen, J. G., Jonasson, J., Therkelsen, A. J., Lass, F., Lindsten, J., and Patersen, G. B., 1972, Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes, Heriditas 71:160.

    Article  Google Scholar 

  • Leck, I., 1966, Incidence and epidemicity of Down’s syndrome, Lancet 2:457.

    Article  Google Scholar 

  • Leff, J. P., and Scott, P. D., 1968, XYY and intelligence, Lancet 1:645.

    Article  Google Scholar 

  • Lejeune, J., and Berger, R., 1965, Sur deux observations familiales de translocations complexes, Ann. Genet. 8:21.

    Google Scholar 

  • Lejeune, J., LaFourcade, T., Berger, R., Vialatte, J., Boeswillwold, M., Seringe, P., and Turpin, R., 1963, Trois cas de déletion partielle des bras courts d’un chromosome 5, C.R. Acad. Sci. 257:3098.

    Google Scholar 

  • Lejeune, J., Berger, R., LaFourcade, J., and Rethore, M. O., 1966, La déletion partielle du bras long du chromosome 18. Individualization d’un nouvel état morbide, Ann. Genet. 9:32.

    Google Scholar 

  • Lejeune, J., Rethore, M. O., Dutrillaux, B., and Martin, G., 1972, Translocation 8-22 sans changement de longueur et trisomie partielle 8q., Exp. Cell Res. 74:293.

    Article  Google Scholar 

  • Lewandowski, R. C., and Yunis, J. J., 1975. New chromosomal syndrome, Am. J. Dis. Child. 129:515.

    Google Scholar 

  • Lin, C. C., Uchida, I. A., and Byrnes, E., 1971, A suggestion for the nomenclature of the fluorescent banding patterns in human metaphase chromosomes, Can. J. Genet. Cytol. 13:361. 13:361.

    Google Scholar 

  • Lubs, H. A., and Ruddle, F. H., 1970, Chromosomal abnormalities in the human population: Estimation of rates based on New Haven newborn study, Science 169:495.

    Article  Google Scholar 

  • Lucas, M., Wallace, L, and Hirschhorn, K., 1972, Recurrent abortions and chromosome abnormalities, J. Obstet. Gynaecol. Br. Commonw. 79:1119.

    Article  Google Scholar 

  • Magnelli, N. C. and Therman, E., 1975, Partial 12p deletion: A cause for a mental retardation, multiple congenital abnormality syndrome, J. Med. Genet. 12:105.

    Article  Google Scholar 

  • Merrick, S., Ledley, R. S., and Lubs, H. A., 1973, Production of G and C banding with progressive trypsin treatment, Pediatr. Res. 7:39.

    Article  Google Scholar 

  • Mikamo, K., 1968, Intrafollicular overripeness and teratological development, Cytogenetics 7:212.

    Article  Google Scholar 

  • Milunsky, A., 1973, The Prenatal Diagnosis of Hereditary Disorders, Charles C Thomas, Springfield, Ill.

    Google Scholar 

  • Money, J., 1964, Two cytogenetic syndromes: Psychologic comparisons. I. Intelligence and specific-factor quotients, J. Psychiatr. Res. 2:223.

    Article  Google Scholar 

  • Moore, C. M., Heller, R. H., and Thomas, G. H., 1973, Developmental abnormalities associated with a ring chromosome 6, J. Med. Genet. 10:299.

    Article  Google Scholar 

  • Muldal, S., Enoch, B. A., Ahmed, A., and Harris, R., 1973, Partial trisomy 14q-and pseudoxanthoma elasticum, Clin. Genet. 4:480.

    Article  Google Scholar 

  • Nadler, H. L., 1972, Prenatel detection of genetic disorders, Adv. Hum. Genet. 3:1.

    Google Scholar 

  • National Institute of Mental Health, Report on the XYY Chromosomal Abnormality, 1970, Public Health Service Publication No. 2103, October.

    Google Scholar 

  • Neu, R. L., and Kajii, T., 1969, Other autosomal abnormalities, in: Endocrine and Genetic Diseases of Childhood (L. I. Gardner, ed.), pp. 652–667, W. B. Saunders, Philadelphia, Pa.

    Google Scholar 

  • Neu, R. L., Bargman, G. J., and Gardner, L. I., 1969, 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.

    Google Scholar 

  • Nichols, W. W., 1966, The role of viruses in the etiology of chromosomal abnormalities, Am. J. Hum. Genet. 18:81.

    Google Scholar 

  • Norwood, T. H., and Hoehn, H., 1974, Trisomy of the long arm of human chromosome 1, Humangenetik 25:79.

    Google Scholar 

  • Nusbacher, J., and Hirschhorn, K., 1968, Autosomal anomalies in man, Adv. Teratol. 3:1.

    Google Scholar 

  • Nusbacher, J., Hirschhorn, K., and Cooper, L. Z., 1967, Chromosomal abnormalities in congenital rubella, N. Engl. J. Med. 276:1409.

    Article  Google Scholar 

  • Owen, L., Martin, B., Blank, C. E., and Harris, F., 1974, Multiple congenital defects associated with trisomy for the short arm of chromosome 4, J. Med. Genet. 10:291.

    Article  Google Scholar 

  • Pardue, M. L., and Gall, J. G., 1970, Chromosomal localization of mouse satellite DNA, Science 168:1356.

    Article  Google Scholar 

  • Paris Conference, 1972, Standardization in human cytogenetics, birth defects. Original Article Series, Vol. VIII, No. 7, The National Foundation-March of Dimes.

    Google Scholar 

  • Patil, S. R., Merrick, S., and Lubs, H. A., 1971, Identification of each human chromosome with modified Giemsa stain, Science 173:821.

    Article  Google Scholar 

  • Pearson, P. L., Bobrow, M., and Vosa, C. G., 1970, Technique for identifying Y chromosomes in human interphase nuclei, Nature 226:78.

    Article  Google Scholar 

  • Penrose, L. S., 1967, Finger-print pattern and the sex chromosomes, Lancet 1:298.

    Article  Google Scholar 

  • Penrose, L. S., and Smith, G. F., 1966, Down’s Anomaly, Little, Brown, Boston.

    Google Scholar 

  • Pfeiffer, R. A., Buttinghaus, K., and Struck, H., 1973, Partial trisomy 14, Humangenetik 20:187.

    Article  Google Scholar 

  • Plotkin, S. A., Boué, A., and Boué, J. G., 1965, In vitro growth of rubella virus in human embryo cells, Am. J. Epidemiol. 81:71.

    Google Scholar 

  • Podruch, P. E., and Weisskopf, B., 1974, Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q-) in three generations, J. Pediatr. 85:92.

    Article  Google Scholar 

  • Polani, P. E., 1969, Autosomal imbalance and its syndromes, excluding Down’s Br. Med. Bull. 25:81.

    Google Scholar 

  • Poon, P. K., O’Brien, R. L., and Parker, J. W., 1974, Defective DNA repair in Fanconi’s anemia, Nature 250:223.

    Article  Google Scholar 

  • Preus, M., and Fraser, F. C., 1972, Dermatoglyphics and syndromes, Am. J. Dis. Child. 124:1972.

    Google Scholar 

  • Punnett, H. H., Kistenmacher, M. L., Toro-Solo, M. A. and Kohn, G., 1973, Quinacrine fluorescence and Giemsa banding in trisomy 22, Theor. Appl. Genet. 43:134.

    Article  Google Scholar 

  • Rethore, M. O., Lejeune, J., Carpentier, S., Prieur, M., Dutrillaux, B., Seringe, Ph., Rossier, A., and Job, J. C., 1972, Trisomie pour la partie distale du bras court du chromosome 3 chex trois germains. Premier exemple d’insertion chromosomique: ins (7;3) (q31;p21p26), Ann. Genet. 15:159.

    Google Scholar 

  • Rethore, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., and Lejeune, J., 1973, Analyse de la trisomie 9p par denaturation menagee, Humangenetik 18:129.

    Article  Google Scholar 

  • Richmond, H. G., MacArthur, P., and Hunter, D., 1973, A “G” deletion syndrome anti-mongolism, Acta Paediatr. Scand. 62:216.

    Article  Google Scholar 

  • Riis, P., and Fuchs, F., 1966, Sex chromatin and antenatal sex diagnosis, in: The Sex Chromatin (K. L. Moore, ed.), Chapter 13, pp. 220–228, W. B. Saunders, Philadelphia, Pa.

    Google Scholar 

  • Robinson, J. A., 1973, Origin of extra chromosome in trisomy 21, Lancet 1:131.

    Article  Google Scholar 

  • Sanchez, O., Yunis, J. J., and Escobar, J. I., 1974, Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13, Humangenetik 22:59.

    Article  Google Scholar 

  • Saunders, G. F., Hsu, T. C., Getz, M. J., Simes, E. L., and Arrighi, F. E., 1972, Locations of a human satellite DNA in human chromosomes, Nature (London), New Biol. 236:244.

    Article  Google Scholar 

  • Schindler, A. N., and Mikamo, K., 1970, Triploidy in man: Report of a case and discussion on etiology, Cytogenetics 9:116.

    Article  Google Scholar 

  • Schleiermacher, E., Schliebitz, U., and Steffens, C., 1974, Brother and sister with trisomy 10p: A new syndrome, Humangenetik 23:163.

    Google Scholar 

  • Schnedl, W., 1971, Analysis of the human karyotype using a reassociation technique, Chromosoma 34:448.

    Article  Google Scholar 

  • Schreck, R. R., Warburton, D., Miller, O. J., Beiser, S. M., and Erlanger, B. F., 1973, Chromosome structure as revealed by a combined chemical and immunochemical procedure, Proc. Natl. Acad. Sci. U.S.A. 70:804.

    Article  Google Scholar 

  • Schrott, H. G., Sakaguchi, S., Francke, U., Luzzatti, L., and Fialkow, P. J., 1974, Translocation, t(4q-;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation, J. Med. Genet. 11:201.

    Article  Google Scholar 

  • Schull, W. J., and Neel, J. V., 1962, Maternal radiation and mongolism, Lancet 1:537.

    Article  Google Scholar 

  • Schwanitz, G., and Grosse, K. P., 1973, Partial trisomy 4p with translocation 4p-, 22p+ in the father, Ann. Genet. 16:263.

    Google Scholar 

  • Seabright, M., 1972, The use of proteolytic enzymes for the mapping structural rearrangements in the chromosomes of man, Chromosoma 36:204.

    Article  Google Scholar 

  • Sergovich, F., Valentine, G. H., Chen, A. T. L., Kinch, R. A. H., and Smout, M. S., 1969, Chromosome aberrations in 2159 consecutive newborn babies, N. Engl. J. Med. 280:851.

    Article  Google Scholar 

  • Sergovich, F., Uilenberg, C., and Pozsonyi, J., 1971, The 49,XXXXX chromosome constitution: Similarities to the 49,XXXXY condition J. Pediatr. 78:285.

    Article  Google Scholar 

  • Serr, D. M., Sachs, L., and Danon, M., 1955, Diagnosis of sex before birth using cells from the amniotic fluid, Bull. Res. Council Israel 58:137.

    Google Scholar 

  • Sedow, R. B., Regan, J. D., German, J., and Carrier, W. L., 1969, Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA, Proc. Natl. Acad. Sci. U.S.A. 64:1035.

    Article  Google Scholar 

  • Shokeir, M. H. K., Ray, M., Hamerton, J. L., Bauder, F. and O’Brien, H. O., 1975, Deletion of the short arm of chromosome no. 10, J. Med. Genet. 12:99.

    Article  Google Scholar 

  • Short, E. M., Solitare, G. B., and Berg, W. R., 1973, A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother, J. Med. Genet. 9:367.

    Article  Google Scholar 

  • Smith, D. W., 1970, Recognizable patterns of human malformation; genetic, embryologic and clinical aspects, Major Problems in Clinical Pediatrics (D. W. Smith, ed.), Vol. VII, pp. 38–53, W. B. Saunders, Philadelphia, Pa.

    Google Scholar 

  • Sparkes, R. S., Müller, H. M., and Veomett, I. C., 1970, Inherited pericentric inversion of a human Y chromosome in trisomie Down’s syndrome, J. Med. Genet. 7:59.

    Article  Google Scholar 

  • Stark, C. R., and Fraumeni, J. F., Jr., 1966, Viral hepatitis and Down’s syndrome, Lancet 1:1036.

    Article  Google Scholar 

  • Starkman, M. N., and Jaffe, R. B., 1967, Chromosome aberrations in XO/XY mosaic individuals and their fathers, Am. J. Obstet. Gynecol. 99:1056.

    Google Scholar 

  • Stewart, A. L., Keay, A. J., Jacobs, P. A., and Melville, M. M., 1969, A chromosome survey of unselected live-born children with congenital abnormalities, J. Pediatr. 74:449.

    Article  Google Scholar 

  • Stoll, C., Rohmer, A., and Sauvage, P., 1973, Chromosome 22 en anneau R (22): Identification per denaturation thermique menagee, Ann. Genet. 16:193.

    Google Scholar 

  • Stoller, A., and Collmann, R. D., 1965, Incidence of infective hepatitis followed by Down’s syndrome nine months later, Lancet 2:1221.

    Article  Google Scholar 

  • Subrt, I., and Brychnac, V., 1974, Trisomy for short arm of chromosome 20, Humangenetik 23:219.

    Article  Google Scholar 

  • Sumner, A. T., 1973, Involvement of protein disulphides and sulphydryls in chromosome banding, Exp. Cell Res. 83:438.

    Article  Google Scholar 

  • Sumner, A. T., and Evans, H. J., 1973, Mechanisms involved in the banding of chromosomes with quinacrine and Giemsa II. The interaction of the dyes with the chromosomal components, Exp. Cell Res. 81:223.

    Article  Google Scholar 

  • Sumner, A. T., Evans, H. J., and Buckland, R. A., 1971, A new technique for distinguishing between human chromosomes, Nature (London), New Biol. 232:31.

    Google Scholar 

  • Sumner, A. T., Evans, H. J., and Buckland, R. A., 1973, Mechanisms involved in the banding of chromosomes with quinacrine Giemsa, I. The effects of fixation in methanolacetic acid, Exp. Cell Res. 81:214.

    Article  Google Scholar 

  • Surana, R. B., and Conen, P. E., 1972, Partial trisomy 4 resulting from a 4/18 reciprocal translocation, Ann. Genet. 15:191.

    Google Scholar 

  • Taysi, K., Kohn, G., and Mellman, W. J., 1970, Mosaic mongolism II. Cytogenetic studies, J. Pediatr. 76:880.

    Article  Google Scholar 

  • Tuncbilek, E., Haliciouglu, C., and Say, B., 1974, Trisomy 8 syndrome, Humangenetik 23:23.

    Article  Google Scholar 

  • Turpin, R., and Lejeune, J., 1961, Chromosome translocations in man, Lancet 1:616.

    Article  Google Scholar 

  • Tusques, J., Grislain, J. R., Andre, M. J., Mainard, R., Rival, J. M., Cadudal, J. L., Dutrillaux, B., and Lejeune, J., 1972, Trisomie partielle llq identifiée grace à l’étude en “dénaturation ménagée” par la chaleur, de la translocation équilibrée paternelle, Ann. Genet. 15:167.

    Google Scholar 

  • Uchida, I. A., and Curtis, E. J., 1961, A possible association between maternal radiation and mongolism, Lancet 2:848.

    Article  Google Scholar 

  • Uchida, I. A., and Lin, C. C., 1973, Identification of partial 12 trisomy by quinacrine fluorescence, J. Pediatr. 82:269.

    Article  Google Scholar 

  • Uchida, I. A., Ray, M., McRae, K. N., and Besant, D. F., 1968, Familial occurrence of trisomy 22, Am. J. Hum. Genet. 20:107.

    Google Scholar 

  • Vickers, A. D., 1969, Delayed fertilization and chromosomal anomalies in mouse embryos, J. Reprod. Fertil. 20:69.

    Article  Google Scholar 

  • Vogel, W., Siebers, J. W., and Reinwein, H., 1973, Partial trisomy 7q, Ann. Genet. 16:277.

    Google Scholar 

  • Vosa, C. G., 1970, Heterochromatin recognition with fluorochromes, Chromosoma 30:366.

    Article  Google Scholar 

  • Walker, S., Andrews, J., Gregson, N. M., and Gault, W., 1973, Three further cases of triploidy in man surviving to birth, J. Med. Genet. 10:135.

    Article  Google Scholar 

  • Walraven, P., Greensher, A., Sparks, J. W., and Wesenberg, R. L., 1974, Trisomy 8 mosaicism, Am. J. Dis. Child. 128:564.

    Google Scholar 

  • Warkany, J., 1971, Part VIII, Cardiovascular malformations, in: Congenital Malformations, pp. 576–578, Year Book Medical Publishers, Chicago.

    Google Scholar 

  • Warren, R. J., and Rimoin, D. L., 1970, The G deletion syndromes, J. Pediatr. 77:658.

    Article  Google Scholar 

  • Weisblum, B., and de Haseth, P., 1972, Quinacrine a chromosome stain specific for deoxyadenylate-deoxythymidylate-rich regions in DNA, Proc. Natl. Acad. Sci. U.S.A. 69:629.

    Article  Google Scholar 

  • White, M.J. D., 1954, Animal Cytology and Evolution, 2nd ed. Cambridge Univ. Press, London and New York.

    Google Scholar 

  • Wilson, M. G., Towner, J. W., and Negus, L. D., 1970, Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome No. 4, J. Med. Genet. 7:164.

    Article  Google Scholar 

  • Witkin, H. A., Mednick, S. A., Schulsinger, F., Bakkestrom, E., Christiansen, K. O., Goodenough, D. R., Hirschhorn, K., Lundsteen, C., Owen, D. R., Philip, J., Rubin, D. B., and Stocking, M., 1976, Criminality in XYY and XXY men, Science 193:547.

    Article  Google Scholar 

  • Wolf, U., Reinwein, H., Porsch, R., Schroter, R., and Baitsch, H., 1965, Defizienz an den kurzen Armen eines Chromosome No. 4, Humangenetik 1:397.

    Article  Google Scholar 

  • de Wolff, E., 1964, Étude clinique de 134 mongolien, Ann. Paediatr. 202(Suppl. 1):1.

    Google Scholar 

  • Wright, Y. M., Clark, W. E., and Breg, W. R., 1974, Craniorachischisis in partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p+;llq-), J. Med. Genet. 11:69.

    Article  Google Scholar 

  • Wyandt, H. E., and Hecht, F., 1971, Detection of the X-chromatin body in human fibroblasts by quinacrine fluoromicrocopy, Lancet 2:1379.

    Article  Google Scholar 

  • Yunis, J. J., and Sanchez, O., 1974, A new syncrome resulting from partial trisomy for the distal third of the long arm of chromosome 10, J. Pediatr. 84:567.

    Article  Google Scholar 

  • Zaleski, W. A., Houston, C. S., Pozsonyi, J., and Ying, K. L., 1966, The XXXXY chromosome anomaly: Report of three new cases and review of 30 cases from the literature, Can. Med. Assoc.J. 94:1143.

    Google Scholar 

  • Zellweger, H., and Abbo, G., 1965, Familial mosaicism attributable to a new gene, Lancet 1:455.

    Article  Google Scholar 

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  1. Department of Pediatrics, Division of Medical Genetics, Mount Sinai School of Medicine of the City University of New York, New York, New York, 10029, USA

    Lillian Y. F. Hsu & Kurt Hirschhorn

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  1. Lillian Y. F. Hsu
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  2. Kurt Hirschhorn
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  1. The Children’s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA

    James G. Wilson

  2. Departments of Biology and Paediatrics, McGill University and The Montreal Children’s Hospital, Montreal, Canada

    F. Clarke Fraser

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Hsu, L.Y.F., Hirschhorn, K. (1977). Numerical and Structural Chromosome Abnormalities. In: Wilson, J.G., Fraser, F.C. (eds) Handbook of Teratology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8933-4_3

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