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[X染色体臂间倒位所致侏儒症]

[Dwarfism in pericentric inversion of the X-chromosome].

作者信息

Beyer R, Wild F, Singer H, Pfeiffer R, Dörr H G

机构信息

Klinik mit Poliklinik für Kinder und Jugendliche, Friedrich-Alexander Universität Erlangen-Nürnberg.

出版信息

Klin Padiatr. 1995 Sep-Oct;207(5):305-8. doi: 10.1055/s-2008-1046557.

Abstract

We report on a 9 2/12 year old girl with pericentric inversion of the X-chromosome. It was diagnosed accidentally by a chromosome-analysis led through because of small stature. She bears a strong phenotypic resemblance to her mother (normal chromosomes), carrier of the pericentric inversion however is the phenotypically normal father. The breakpoint of the X-chromosome not lying within the critical region suggests that the patient will neither suffer a gonadal dysfunction. Both short stature and phenotypic dysmorphic features have familial cause.

摘要

我们报告了一名9岁2个月大的患有X染色体臂间倒位的女孩。由于身材矮小,通过染色体分析偶然诊断出该疾病。她与表型正常的母亲(染色体正常)在外貌上极为相似,然而携带臂间倒位的却是表型正常的父亲。X染色体的断点不在关键区域,这表明该患者不会出现性腺功能障碍。身材矮小和表型畸形特征均有家族性原因。

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