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1号染色体短臂间质缺失（46XY，del(1)(p13p22.3)）

Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3)).

作者信息

Mattia F R, Wardinsky T D, Tuttle D J, Grix A, Smith K A, Walling P

机构信息

Department of Pediatrics, David Grant USAF Medical Center, Travis AFB, CA 94535.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):551-4. doi: 10.1002/ajmg.1320440503.

DOI:10.1002/ajmg.1320440503
PMID:1481806
Abstract

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

摘要

描述了一名患有1号染色体短臂新发近端间质缺失（46XY，del(1)(p13p22.3)）的男性患者，其存在多种异常和发育迟缓。将该患者的临床表现与先前报道的1p染色体缺失患者进行了比较。

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