BLEPHAROPHIMOSIS SEQUENCE AND DIAPHRAGMATIC-HERNIA ASSOCIATED WITH INTERSTITIAL DELETION OF CHROMOSOME-3 (46,XY,DEL(3)(Q21Q23))

Authors
WOLSTENHOLME J BROWN J MASTERS KG WRIGHT C ENGLISH CJ
Citation
J. Wolstenholme et al., BLEPHAROPHIMOSIS SEQUENCE AND DIAPHRAGMATIC-HERNIA ASSOCIATED WITH INTERSTITIAL DELETION OF CHROMOSOME-3 (46,XY,DEL(3)(Q21Q23)), Journal of Medical Genetics, 31(8), 1994, pp. 647-648
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
8
Year of publication
1994
Pages
647 - 648
Database
ISI
SICI code
0022-2593(1994)31:8<647:BSADAW>2.0.ZU;2-7
Abstract
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) ass ociated with prenatally diagnosed diaphragmatic and interstitial delet ion hernia of the long arm of chromosome 3, del(3)(q21q23), is reporte d. Comparison with other cases of BPES resulting from 3q rearrangement s indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.