Interstitial deletion of chromosome 2p16.2p21

被引：9

作者：

Sanders, SR

Dawson, AJ

Vust, A

Hryshko, M

Tomiuk, M

Riordan, D

Prasad, C

机构：

[1] Univ Manitoba, Dept Pediat, Sect Genet & Metab, Winnipeg, MB R3A 1R9, Canada

[2] Univ Manitoba, Hlth Sci Ctr, Cytogenetis Lab, Winnipeg, MB R3A 1R9, Canada

来源：

CLINICAL DYSMORPHOLOGY | 2003年 / 12卷 / 03期

关键词：

development delay; facial dysmorphism; 2p deletion;

D O I：

10.1097/01.mcd.0000065051.36236.e9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a female who presents with an atrial septal defect (ASD) mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). This is the first report of a deletion in chromosome 2 involving those particular breakpoints. We propose that this may represent a new recognizable chromosomal phenotype.

引用

页码：183 / 185

页数：3

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