Human Genetics

, Volume 97, Issue 2, pp 218–223

Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction

  • Thomas Eggermann
  • Markus M. Nöthen
  • Bernd Eiben
  • Dieter Hofmann
  • Klaus Hinkel
  • Rolf Fimmers
  • Gesa Schwanitz
Original Investigation

DOI: 10.1007/BF02265269

Cite this article as:
Eggermann, T., Nöthen, M.M., Eiben, B. et al. Hum Genet (1996) 97: 218. doi:10.1007/BF02265269
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Abstract

We investigated the parent and cell division of origin of the extra chromosome 18 in 62 aneuploids with a free trisomy 18 by using chromosome-18-specific pericentromeric short-sequence repeats. In 46 cases, DNA of patients was recovered from archival specimens, such as paraffin-embedded tissues and fixed chromosomal spreads. In 56 families, the supernumerary chromosome was maternal in origin; in six families, it was paternal. Among the 56 maternally derived aneuploids, we could exclude a postzygotic mitotic error in 52 cases. Among those in which the nondisjunction was attributable to an error at meiosis, 11 were the result of a meiosis I nondisjunction and 17 were caused by a meiosis II error. This result differs markedly from findings in acrocentric chromosomes where nondisjunction at maternal meiosis I predominates. Among the six paternally derived cases, two originated from a meiotic error, indicating that a nondisjunction in paternal meiosis is not as rare as previously suggested.

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Thomas Eggermann
    • 1
  • Markus M. Nöthen
    • 1
  • Bernd Eiben
    • 2
  • Dieter Hofmann
    • 3
  • Klaus Hinkel
    • 4
  • Rolf Fimmers
    • 5
  • Gesa Schwanitz
    • 1
  1. 1.Institut für Humangenetik der Universität BonnBonnGermany
  2. 2.Evangelisches Krankenhaus OberhausenOberhausenGermany
  3. 3.Institut für Kinderpathologie der Universität BonnBonnGermany
  4. 4.Institut für Klinische Genetik des Klinikums Carl-Gustav-Carus der Technischen Universität DresdenDresdenGermany
  5. 5.Institut für Medizinische StatistikDokumentation und Datenverarbeitung der Universität BonnBonnGermany