父子均患智力迟钝且存在Y/8易位[核型：46，XY，t(Y;8)(q12;q24)]
Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.
作者信息
Fryns J P, Kleczkowska A, Dereymaeker A M, Van den Berghe H
机构信息
Center for Human Genetics, Leuven, Belgium.
出版信息
Helv Paediatr Acta. 1988 Aug;43(1-2):87-90.
PMID:3170249
Abstract
In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.
摘要
在本报告中，我们描述了一名98/12岁男性，具有努南综合征表型、中度智力障碍以及46,XY, der(8), t(Y;8)(q12;q24)核型。对该家族的进一步检查发现，这个男孩的努南综合征特征遗传自他的母亲，而Y/8易位则遗传自他中度智力障碍的父亲。
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Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.父子均患智力迟钝且存在Y/8易位[核型：46，XY，t(Y;8)(q12;q24)]
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