DUPLICATION 10Q CONFIRMED BY DNA IN-SITU HYBRIDIZATION

Authors
JOHNSON VP SUTLIFF WC
Citation
Vp. Johnson et Wc. Sutliff, DUPLICATION 10Q CONFIRMED BY DNA IN-SITU HYBRIDIZATION, American journal of medical genetics, 52(2), 1994, pp. 184-187
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
52
Issue
2
Year of publication
1994
Pages
184 - 187
Database
ISI
SICI code
0148-7299(1994)52:2<184:D1CBDI>2.0.ZU;2-9
Abstract
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balance d translocation state in a parent. Verification remains a problem in d e novo cases. However, the recent availability of whole chromosome pro bes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) with verification using DNA in sit u hybridization. (C) 1994 Wiley-Liss, Inc.