Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Georgia Karadima, Merete Bugge, Peter Nicolaidis, Dimitris Vassilopoulos, Dimitris Avramopoulos, Maria Grigoriadou, Beate Albrecht, Eberhard Passarge, Göran Annerén, Elisabeth Blennow, Niels Clausen, Angeliki Galla-Voumvouraki, Aspasia Tsezou, Sofia Kitsiou-Tzeli, Johanne M. Hahnemann, Jens M. Hertz, Gunnar Houge, Miloslav Kuklík, Milan Macek, Didier LacombeKonstantin Miller, Anne Moncla, I. López Pajares, Philippos C. Patsalis, Marguerite Prieur, Michel Vekemans, Gabriela Von Beust, Karen Brøndum-Nielsen, Michael B. Petersen

Research output: Contribution to journalArticle

Abstract

Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

Original languageEnglish (US)
Pages (from-to)432-438
Number of pages7
JournalEuropean Journal of Human Genetics
Volume6
Issue number5
DOIs
StatePublished - Jan 1 1998
Externally publishedYes

Keywords

  • Meiosis
  • Microsatellites
  • Mitosis
  • Mosaicism
  • Nondisjunction
  • Trisomy 8
  • Warkany syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Karadima, G., Bugge, M., Nicolaidis, P., Vassilopoulos, D., Avramopoulos, D., Grigoriadou, M., Albrecht, B., Passarge, E., Annerén, G., Blennow, E., Clausen, N., Galla-Voumvouraki, A., Tsezou, A., Kitsiou-Tzeli, S., Hahnemann, J. M., Hertz, J. M., Houge, G., Kuklík, M., Macek, M., ... Petersen, M. B. (1998). Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. European Journal of Human Genetics, 6(5), 432-438. https://doi.org/10.1038/sj.ejhg.5200212