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一例与特纳综合征相关的15号染色体三体局限型胎盘嵌合体病例。

A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME.

作者信息

Ekici C, Sahin Y, Yaykasli K O, Melekoglu R, Sahin N, Yuksel S

出版信息

Genet Couns. 2016;27(4):485-488.

Abstract

We here present a rare case of a Turner syndrome with mosaic trisomy 15 identified on chorionic villous sampling (CVS). Although there are several reports in the literature indicating confined placental mosaicism (CPM), counseling parents of a fetus with trisomy 15 mosaicism at CVS remains difficult because of the phenotypic variability. To illuminate that condition an amniocentesis or cord blood study should be offered in conjunction with genetic counseling.

摘要

我们在此呈现一例罕见病例,该病例为经绒毛取样(CVS)确诊的患有15号染色体三体嵌合体的特纳综合征。尽管文献中有几篇报道指出存在局限性胎盘嵌合体(CPM),但由于表型变异性,为绒毛取样显示15号染色体三体嵌合体胎儿的父母提供咨询仍然很困难。为了阐明这种情况,应在遗传咨询的同时进行羊水穿刺或脐血检查。

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