Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Molecular Cytogenetics

Alida C Knegt¹  Eva Pajkrt²  Mariëlle Alders¹  Inge B Mathijssen¹  Daniela QCM Barge-Schaapveld¹  Karin Huijsdens-van Amsterdam¹ 

[1] Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands;Department of Fetal Medicine, Academic Medical Center, Amsterdam

关键词: trisomy 13;    trisomy 7;    mosaicism;    double autosomal aneuploidy;   

Others  :  1151755
DOI  :  10.1186/1755-8166-5-8

 received in 2011-12-07, accepted in 2012-01-27,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Amsterdam et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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