TY - JOUR
T1 - Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
AU - Karadima, Georgia
AU - Bugge, Merete
AU - Nicolaidis, Peter
AU - Vassilopoulos, Dimitris
AU - Avramopoulos, Dimitris
AU - Grigoriadou, Maria
AU - Albrecht, Beate
AU - Passarge, Eberhard
AU - Annerén, Göran
AU - Blennow, Elisabeth
AU - Clausen, Niels
AU - Galla-Voumvouraki, Angeliki
AU - Tsezou, Aspasia
AU - Kitsiou-Tzeli, Sofia
AU - Hahnemann, Johanne M.
AU - Hertz, Jens M.
AU - Houge, Gunnar
AU - Kuklík, Miloslav
AU - Macek, Milan
AU - Lacombe, Didier
AU - Miller, Konstantin
AU - Moncla, Anne
AU - Pajares, I. López
AU - Patsalis, Philippos C.
AU - Prieur, Marguerite
AU - Vekemans, Michel
AU - Von Beust, Gabriela
AU - Brøndum-Nielsen, Karen
AU - Petersen, Michael B.
N1 - Funding Information:
We thank all the families for their participation in the study. This work was supported by grants from Else og Mogens Wedell-Wedellsborg Fond, Brødrene Hartmanns Fond, Fru C Hermansens Mindelegat, Direktør Jacob Madsens & Hustru Olga Madsens Fond, Kirstine Fonden, Kong Christian den Tiendes Fond, and Lily Benthine Lunds Fond (to MBP), and grant 2861-5 from the Ministry of Health of the Czech Republic (to MM).
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - Meiosis
KW - Microsatellites
KW - Mitosis
KW - Mosaicism
KW - Nondisjunction
KW - Trisomy 8
KW - Warkany syndrome
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U2 - 10.1038/sj.ejhg.5200212
DO - 10.1038/sj.ejhg.5200212
M3 - Article
C2 - 9801867
AN - SCOPUS:13144259703
SN - 1018-4813
VL - 6
SP - 432
EP - 438
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 5
ER -