BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME, A NEW CASE ASSOCIATED WITH DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(37) (Q23Q32)]

Authors
BOCCONE L MELONI A FALCHI AM USAI V CAO A
Citation
L. Boccone et al., BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME, A NEW CASE ASSOCIATED WITH DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(37) (Q23Q32)], American journal of medical genetics, 51(3), 1994, pp. 258-259
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
51
Issue
3
Year of publication
1994
Pages
258 - 259
Database
ISI
SICI code
0148-7299(1994)51:3<258:BPEISA>2.0.ZU;2-3
Abstract
This paper reports a further case of blepharophimosis, ptosis, epicant hus inversus (BPES) syndrome associated with a reciprocal translocatio n [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. (C) 1994 Wiley-Liss, Inc.