一个身材矮小且性腺发育不良的女孩的新生复制xq22-q23。

Annales de genetique Pub Date : 1999-01-01

L Correa-Cerro, D Garcia-Cruz, M X Ruiz, J Sanchez-Corona

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摘要

本文报道1例20岁女性，身材矮小，性腺发育不良，Turner柱头，Xq22-q23新生。母体细胞遗传学检查正常。这种情况代表了一个异常女性中最小的Xq重复。我们讨论了母体印记的可能性。

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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De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.

A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.

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Annales de genetique

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