产前诊断新发相互易位46,XX,t(3;7)(q21;q11) 。
Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).
作者信息
Husslein P, Schnedl W, Wagenbichler P
出版信息
Hum Genet. 1979 Sep 2;51(1):113-6. doi: 10.1007/BF00278300.
PMID:500088
Abstract
A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.
摘要
本文报告了一例因孕妇高龄行羊膜腔穿刺术时检测到的新发相互易位46,XX,t(3;7)(q21;q11)。父母双方核型均正常。该女孩已分娩，出生后第一年未表现出任何表型异常。文中讨论了平衡结构重排中胎儿预后预测所面临的问题。
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