PARTIAL DUPLICATION OF 3Q (Q25.1-]Q26.1) WITHOUT THE BRACHMANN-DELANGE PHENOTYPE

Authors
LOPEZRANGEL E DILL FJ HRYNCHAK MA VANALLEN MI
Citation
E. Lopezrangel et al., PARTIAL DUPLICATION OF 3Q (Q25.1-]Q26.1) WITHOUT THE BRACHMANN-DELANGE PHENOTYPE, American journal of medical genetics, 47(7), 1993, pp. 1068-1071
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
7
Year of publication
1993
Pages
1068 - 1071
Database
ISI
SICI code
0148-7299(1993)47:7<1068:PDO3(W>2.0.ZU;2-H
Abstract
Partial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann-de Lange syndrome (BDLS). We present the case of a 13-year-old girl with an apparent du plication in the 3q25.1-->q26.1 region but none of the manifestations commonly seen in BDLS. The chromosome 3 duplication was confirmed with a FISH painting probe of the involved region. These results suggest t hat the region critical for Brachmann-de Lange syndrome is not within the duplicated region of 3q25.1-->q26.1. (C) 1993 Wiley-Liss, Inc.