DENOVO INV(2)(P21Q31) ASSOCIATED WITH ISOLATED BILATERAL MICROPHTHALMIA AND CATARACTS

被引：5

作者：

WEAVER, RG

RAO, N

THOMAS, IT

PETTENATI, MJ

机构：

[1] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,MED CTR,DEPT PEDIAT,MED GENET SECT,300 S HAWTHORNE RD,WINSTON SALEM,NC 27103

[2] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,MED CTR,DEPT OPHTHALMOL,WINSTON SALEM,NC 27103

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期

关键词：

CHROMOSOME-2; INVERSION; EYE ABNORMALITIES; EYE DEVELOPMENT;

D O I：

10.1002/ajmg.1320400428

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.

引用

页码：509 / 512

页数：4