BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS-INVERSUS SYNDROME (BPES) ASSOCIATED WITH INTERSTITIAL DELETION OF BAND 3Q22 - REVIEW AND GENE ASSIGNMENT TO THE INTERFACE OF BAND-3Q22.3 AND BAND-3Q23

被引：37

作者：

JEWETT, T ^{[1
]}

RAO, PN ^{[1
]}

WEAVER, RG ^{[1
]}

STEWART, W ^{[1
]}

THOMAS, IT ^{[1
]}

PETTENATI, MJ ^{[1
]}

机构：

[1] WAKE FOREST UNIV,MED CTR,BOWMAN GRAY SCH MED,DEPT OPHTHALMOL,WINSTON SALEM,NC 27109

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 08期

关键词：

BLEPHAROPHIMOSIS; BPES; INTERSTITIAL DELETION; CHROMOSOME-3;

D O I：

10.1002/ajmg.1320470802

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23. (C) 1993 Wiley-Liss, Inc.

引用

页码：1147 / 1150

页数：4

共 30 条

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