[Prenatal diagnosis of a translocation (X;Y) and genetic counseling].

Journal de genetique humaine Pub Date : 1989-09-01
H Stora-de Novion, C Petit, S Raynaud, N Ayraud
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Abstract

A cytogenetic prenatal diagnosis due to maternal age led us to find a male fetus with a (X;Y) translocation. This translocation is found in the mother, who presents no phenotypic abnormalities or mental retardation. The 22 cases described in the literature indicate that among male carriers of an (X;Y) translocation, half the cases present mental retardation and 2/3 phenotypic anomalies. These findings led us to give a genetic counselling of therapeutic abortion. Post mortem histological examination revealed no morphodysplasia.

[产前诊断易位(X;Y)和遗传咨询]。
由于母亲的年龄,细胞遗传学产前诊断使我们发现一个男性胎儿有(X;Y)易位。这种易位是发现在母亲,谁没有表现出表型异常或智力低下。文献描述的22例表明,在(X;Y)易位的男性携带者中,一半的病例表现为智力低下,2/3的病例表现为表型异常。这些发现促使我们对治疗性流产进行遗传咨询。死后组织学检查未见形态发育不良。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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