INTERSTITIAL DELETION OF 4(Q21Q25) IN A LIVEBORN MALE

被引：17

作者：

ROSE, NC

SCHNEIDER, A

MCDONALDMCGINN, DM

CASERTA, C

EMANUEL, BS

ZACKAI, EH

机构：

[1] HAHNEMANN UNIV,DEPT PEDIAT,PHILADELPHIA,PA 19102

[2] CHILDRENS HOSP,DEPT CYTOGENET,PHILADELPHIA,PA 19104

[3] CHILDRENS HOSP,DEPT CLIN GENET,PHILADELPHIA,PA 19104

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 01期

关键词：

4Q DELETION; MULTIPLE CONGENITAL ANOMALIES; INTERSTITIAL DELETION; 4Q; CHROMOSOME 4 (HUMAN);

D O I：

10.1002/ajmg.1320400115

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a liveborn male with a de novo deletion of 4(q2lq25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar breakpoints. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

引用

页码：77 / 79

页数：3

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