Skip to main content

Chromosome Instability Syndromes

  • Chapter
Human Chromosomes

Part of the book series: Springer Study Edition ((SSE))

  • 175 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

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

    Google Scholar 

  • 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

    Google Scholar 

  • Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin, pp 71–82

    Google Scholar 

  • Bosman FT, van Vloten WA (1976) Sézary’s syndrome: A cytogenetic, cytophotometric and autoradiographic study. J Pathol 118:49–57

    Article  PubMed  CAS  Google Scholar 

  • Brown WT (1983) Werner’s syndrome. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 85–93

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Chan JYH, Becker FF, German J, et al. (1987) Altered DNA ligase I activity in Bloom’s syndrome cells. Nature 325:357–359

    Article  PubMed  CAS  Google Scholar 

  • Cohen MM, Levy HP (1989) Chromosome instability syndromes. Adv Hum Genet 18:43–149

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • Gatti RA, Berkel I, Boder E, et al. (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336:577–580

    Article  PubMed  CAS  Google Scholar 

  • German J (1979) Roberts’ syndrome. I. Cytological evidence for a disturbance in chromatid pairing. Clin Genet 16:441–447

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • German J, Archibald R, Bloom D (1965) Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148:506–507

    Article  PubMed  CAS  Google Scholar 

  • German J, Bloom D, Passarge E (1984) Bloom’s syndrome. XI. Progress report for 1983. Clin Genet 25:166–174

    Article  PubMed  CAS  Google Scholar 

  • Gustavson K-H, Jansson R, Oberg K (1983) Chromosomal breakage in multiple endocrine adenomatosis (types I and II). Clin Genet 23:143–149

    Article  PubMed  CAS  Google Scholar 

  • Hecht F, Hecht BK (1990) Cancer in ataxia-telangiectasia patients. Cancer Genet Cytogenet 46:9–19

    Article  PubMed  CAS  Google Scholar 

  • Johnson GA, Dewald GW, Strand WR, et al. (1985) Chromosome studies in 17 patients with the Sézary syndrome. Cancer 55:2426–2433

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • 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

    Article  Google Scholar 

  • Kuhn EM, Therman E (1986) Cytogenetics of Bloom’s syndrome. Cancer Genet Cytogenet 22:1–18

    Article  PubMed  CAS  Google Scholar 

  • Moorhead PS, Heyman A (1983) Chromosome studies of patients with Alzheimer disease. Am J Med Genet 14:545–556

    Article  PubMed  CAS  Google Scholar 

  • Otto PG, Therman E (1982) Spontaneous cell fusion and PCC formation in Bloom’s syndrome. Chromosoma 85:143–148

    Article  PubMed  CAS  Google Scholar 

  • Passarge E (1983) Bloom’s syndrome. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 11–21

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiarer Panmyelopathie. Humangenetik 1:194–196

    Article  PubMed  CAS  Google Scholar 

  • Schroeder-Kurth TM, Auerbach AD, Obe G (eds) (1989a) Fanconi anemia: clinical, cytogenetic and experimental aspects. Springer, Berlin

    Google Scholar 

  • 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

    Google Scholar 

  • Swift M, Chase CL, Morrell D (1990) Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 46:21–27

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Kuhn EM (1981) Mitotic crossing-over and segregation in man. Hum Genet 59:93–100

    Article  PubMed  CAS  Google Scholar 

  • Therman E, Kuhn EM (1985) Incidence and origin of symmetric and asymmetric dicentrics in Bloom’s syndrome. Cancer Genet Cytogenet 15:293–301

    Article  PubMed  CAS  Google Scholar 

  • Tomkins D, Hunter A, Roberts M (1979) Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 4:17–26

    Article  PubMed  CAS  Google Scholar 

  • Willis AE, Lindahl T (1987) DNA ligase deficiency in Bloom’s syndrome. Nature 325:355–357

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 1993 Springer-Verlag New York, Inc.

About this chapter

Cite this chapter

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

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-0529-3_11

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-97871-0

  • Online ISBN: 978-1-4684-0529-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics