Abstract
In humans, chromosome aberrations, including nondisjunction and structural changes, increase with age. Another factor determining the frequency of chromosome aberrations is the genotype of the individual, some persons showing considerably higher rates than others.
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References
Alter BP, Potter NU (1983) Long-term outcome in Fanconi’s anemia: description of 26 cases and review of the literature. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 43–62
Auerbach AD, Ghosh R, Pollio PC, et al. (1989) Diepoxybutane test for prenatal and postnatal diagnosis. In: Schroeder-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin, pp 71–82
Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin, pp 71–82
Bosman FT, van Vloten WA (1976) Sézary’s syndrome: A cytogenetic, cytophotometric and autoradiographic study. J Pathol 118:49–57
Brown WT (1983) Werner’s syndrome. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 85–93
Bruun Petersen G, Christiansen JV, Voetmann E, et al. (1979) Chromosome aberrations in affected and unaffected skin of patients with psoriasis. Acta Dermatovener (Stockholm) 54:147–151
Chaganti RSK, Schonberg S, German J (1974) A manyfold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes. Proc Natl Acad Sci USA 71:4508–4512
Chan JYH, Becker FF, German J, et al. (1987) Altered DNA ligase I activity in Bloom’s syndrome cells. Nature 325:357–359
Cohen MM, Levy HP (1989) Chromosome instability syndromes. Adv Hum Genet 18:43–149
Delhanty JDA, Davis MB, Wood J (1983) Chromosome instability in lymphocytes, fibroblasts, and colon epithelial-like cells from patients with familial polyposis coli. Cancer Genet Cytogenet 8:27–50
Gatti RA, Hall K (1983) Ataxia-telangiectasia: search for a central hypothesis. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 23–41
Gatti RA, Berkel I, Boder E, et al. (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336:577–580
German J (1979) Roberts’ syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin Genet 16:441–447
German J (1983) Patterns of neoplasia associated with the chromosome-breakage syndromes. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 97–134
German J, Archibald R, Bloom D (1965) Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148:506–507
German J, Bloom D, Passarge E (1984) Bloom’s syndrome. XI. Progress report for 1983. Clin Genet 25:166–174
Gustavson K-H, Jansson R, Oberg K (1983) Chromosomal breakage in multiple endocrine adenomatosis (types I and II). Clin Genet 23:143–149
Hecht F, Hecht BK (1990) Cancer in ataxia-telangiectasia patients. Cancer Genet Cytogenet 46:9–19
Johnson GA, Dewald GW, Strand WR, et al. (1985) Chromosome studies in 17 patients with the Sézary syndrome. Cancer 55:2426–2433
Kaiser-McCaw B, Hecht F (1983) The interrelationships in ataxia-telangiectasia of immune deficiency, chromosome instability, and cancer. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 193–202
Kaiser-McCaw B, Hecht F, Harnden DG, et al. (1975) Somatic rearrangement of chromosome 14 in human lymphocytes. Proc Natl Acad Sci USA 72:2071–2075
Kuhn EM, Therman E (1986) Cytogenetics of Bloom’s syndrome. Cancer Genet Cytogenet 22:1–18
Moorhead PS, Heyman A (1983) Chromosome studies of patients with Alzheimer disease. Am J Med Genet 14:545–556
Otto PG, Therman E (1982) Spontaneous cell fusion and PCC formation in Bloom’s syndrome. Chromosoma 85:143–148
Passarge E (1983) Bloom’s syndrome. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 11–21
Pawsey SA, Magnus IA, Ramsay CA, et al. (1979) Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Q J Med New Series 48, 190:179–210
Salk D, Au K, Hoehn H, et al. (1981) Cytogenetics of Werner’s syndrome cultured skin fibroblasts: variegated translocation mosaicism. Cytogenet Cell Genet 30:92–107
Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiarer Panmyelopathie. Humangenetik 1:194–196
Schroeder-Kurth TM, Auerbach AD, Obe G (eds) (1989a) Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin
Schroeder-Kurth TM, Zhu TH, Hong Y, et al. (1989b) Variation in cellular sensitivities among Fanconi anemia patients, non-Fanconi anemia patients, their parents and siblings, and control probands. In: Schroeder-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin, pp 105–136
Swift M, Chase CL, Morrell D (1990) Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 46:21–27
Therman E, Kuhn EM (1981) Mitotic crossing-over and segregation in man. Hum Genet 59:93–100
Therman E, Kuhn EM (1985) Incidence and origin of symmetric and asymmetric dicentrics in Bloom’s syndrome. Cancer Genet Cytogenet 15:293–301
Tomkins D, Hunter A, Roberts M (1979) Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 4:17–26
Willis AE, Lindahl T (1987) DNA ligase deficiency in Bloom’s syndrome. Nature 325:355–357
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© 1993 Springer-Verlag New York, Inc.
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Therman, E., Susman, M. (1993). Chromosome Instability Syndromes. In: Human Chromosomes. Springer Study Edition. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-0529-3_11
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DOI: https://doi.org/10.1007/978-1-4684-0529-3_11
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