Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

被引：6

作者：

Huijsdens-van Amsterdam, Karin ^{[1
]}

Barge-Schaapveld, Daniela Q. C. M. ^{[1
]}

Mathijssen, Inge B. ^{[1
]}

Alders, Marielle ^{[1
]}

Pajkrt, Eva ^{[2
]}

Knegt, Alida C. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Fetal Med, NL-1105 AZ Amsterdam, Netherlands

来源：

MOLECULAR CYTOGENETICS | 2012年 / 5卷

关键词：

double autosomal aneuploidy; mosaicism; trisomy; 7; 13; DOWNS-SYNDROME; INFANT;

D O I：

10.1186/1755-8166-5-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页数：4

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