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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism. 2012
Karin Huijsdens-van Amsterdam, and
Daniela Qcm Barge-Schaapveld, and
Inge B Mathijssen, and
Mariëlle Alders, and
Eva Pajkrt, and
Alida C Knegt
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. k.huijsdens@amc.uva.nl.
Double aneuploidy mosaicism of two different aneuploidy cell lines is rare. We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congenital anomalies. No evidence for chimerism was found by DNA genotyping. The origin of both trisomies are consistent with isodisomy of maternal origin. Therefore, it is most likely that the double trisomy mosaicism arose from two independent events very early in embryonic development. The trisomy 7 and 13 cells were shown to be of maternal origin.
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