Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

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 tr...

Descripción completa

Detalles Bibliográficos
Autores principales: Huijsdens-van Amsterdam, Karin, Barge-Schaapveld, Daniela QCM, Mathijssen, Inge B, Alders, Mariëlle, Pajkrt, Eva, Knegt, Alida C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293093/
https://www.ncbi.nlm.nih.gov/pubmed/22284936
http://dx.doi.org/10.1186/1755-8166-5-8
Descripción
Sumario: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.

Ejemplares similares