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Title: Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis
Authors: Devriendt, Koenraad ×
Matthijs, Gert
Claes, Stephan
Legius, Eric
Proesmans, Willem
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Apr-1997
Series Title: Journal of Medical Genetics vol:34 issue:4 pages:318-22
Abstract: A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the existence of uniparental maternal heterodisomy for chromosome 15 was shown in white blood cells. This provided a molecular explanation for the PWS in this child. In fibrolasts, an additional paternal allele was detected for markers on chromosome 15, which is in agreement with the presence of mosaicism for trisomy 15 in these cells. This example provides direct evidence for trisomic rescue by reduction to disomy as a possible basis for PWS. Whereas the trisomy 15 was caused by a maternal meiosis I error, the triplo-X resulted from a postzygotic gain of a maternal X chromosome, as shown by the finding of two identical maternal X chromosomes in the 47,XXX cell line. Because the triplo-X and the trisomy 15 were present in different cell lines, gain of an X chromosome occurred either in the same cell division as the trisomy 15 rescue or shortly before or after.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Department of Human Genetics - miscellaneous
Forensic Biomedical Sciences
× corresponding author
# (joint) last author

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