Skip to main content
SpringerLink
Log in

Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A family with trisomy-21 mosaicism in two successive generations and a Down's syndrome child in the third generation is presented. Cytogenetic studies of eight individuals of this family showed a marker chromosome 15ph+ and a heteromorphic chromosome 18 in some members. The standard trisomy 21 in the proband was derived from a trisomy-21 oogonium by secondary nondisjunction in his mother.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Begleiter ML, Harris DJ, Magenis RE (1977) Maternal trisomy 21 mosaicism in a family with three children with trisomy 21. Am J Hum Genet 29:28A

    Google Scholar 

  • Hsu LYF, Gertner M, Leiter E, Hirschhorn K (1971) Paternal trisomy 21 mosaicism as a cause of Down syndrome. Am J Genet 23:529–601

    Google Scholar 

  • Kaffe S, Hsu LYF, Hirschhorn K (1974) Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome. J Med Genet 11:378–381

    Google Scholar 

  • Mark HFL, Mendoza T, Abuelo D, Beauregard LJ, May JB, La Marche PH (1977) Reproduction in a woman with low percentage t(21q21q) mosaicism. J Med Genet 14:221–223

    Google Scholar 

  • Mehés K (1973) Paternal trisomy 21 mosaicism and Down's anomaly. Humangenetik 17:297–300

    Google Scholar 

  • Parke JC Jr, Grass FS, Pixley R, Deal J (1980) Trisomy 21 mosaicism in two successive generations in a family. J Med Genet 17:48–49

    Google Scholar 

  • Priest JH, Brantley KE, Blackston RD (1977) Parental mosaicism as a cause of Down snydrome. J Pediatr 90:786–788

    Google Scholar 

  • Richards BW (1974) Investigation of 142 mosaic mongols and mosaic parents of mongols; cytogenetic analysis and maternal age at birth. J Ment Defic Res 18:199–208

    Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972

    Google Scholar 

  • Smith DW, Therma EM, Pätau KA, Inhorn SL (1962) Mosaicism in mother of two mongoloids. Am J Dis Child 104:534

    Google Scholar 

  • Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306

    Google Scholar 

  • Wilroy RS Jr, Summit RL, Martens P (1979) Reproduction in a woman with mosaicism.

Download references

Author information

Authors and Affiliations

  1. Abteilung Medizinische Genetik, Medizinische Akademie Erfurt, Klement-Gottwald-Str. 34, DDR-5080, Erfurt, German Democratic Republic

    W. Werner, F. H. Herrmann & B. John

Authors
  1. W. Werner
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F. H. Herrmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. John
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Werner, W., Herrmann, F.H. & John, B. Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome. Hum Genet 60, 202–204 (1982). https://doi.org/10.1007/BF00569714

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00569714

Keywords

Search

Navigation