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一名患有4号染色体长臂近端间质缺失的患者。

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

作者信息

Beall M H, Falk R E, Ying K L

机构信息

Department of Obstetrics and Gynecology, University of Southern California School of Medicine, Los Angeles 90024.

出版信息

Am J Med Genet. 1988 Nov;31(3):553-7. doi: 10.1002/ajmg.1320310310.

Abstract

A patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions.

摘要

本文报告了一名4号染色体长臂近端缺失的患者。该患者与先前描述的其他6名患者似乎有相似的表现,即中度至重度发育迟缓、身材矮小、手足较小以及面部外观相似。这些患者似乎与4q远端缺失的患者有很大不同。

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