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

Authors
JEWETT T RAO PN WEAVER RG STEWART W THOMAS IT PETTENATI MJ
Citation
T. Jewett et al., 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, American journal of medical genetics, 47(8), 1993, pp. 1147-1150
Citations number
30
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
8
Year of publication
1993
Pages
1147 - 1150
Database
ISI
SICI code
0148-7299(1993)47:8<1147:BPAES(>2.0.ZU;2-C
Abstract
We report on a child with blepharophimosis, ptosis, and epicanthus inv ersus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated w ith eye abnormalities, specifically blepharophimosis and ptosis, stron gly suggests that a locus for eyelid development is present at the int erface of bands 3q22.3 and 3q23. (C) 1993 Wiley-Liss, Inc.