Prenatal evaluation of a de novo X;9 translocation

Authors
Feldman, B Kramer, RL Ebrahim, SAD Wolff, DJ Evans, MI
Citation
B. Feldman et al., Prenatal evaluation of a de novo X;9 translocation, AM J MED G, 85(5), 1999, pp. 476-478
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
85
Issue
5
Year of publication
1999
Pages
476 - 478
Database
ISI
SICI code
0148-7299(19990827)85:5<476:PEOADN>2.0.ZU;2-3
Abstract
A case of X-autosome translocation was diagnosed prenatally [46,X,t(X;9)(p2 1.3 similar to 22.1;q22]. We describe the use of fluorescence in situ hybri dization (FISH) to estimate the integrity of the Duchenne muscular dystroph y (DMD) gene. X-inactivation studies were used as well to assess the probab ility of phenotypic abnormalities associated with functional partial disomy X and monosomy. (C) 1999 Wiley-Liss, Inc.