Publication
Title
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
Author
Abstract
Deletions involving the long arm of chromosome 18 have been reported in many patients. Most of these deletions are localized in the distal half of the long arm (18q21.1 → qter) and are detectable by standard cytogenetic analysis. However, smaller interstitial deletions leading to a recognizable phenotype and residing in the region around chromosome band 18q12.3 (bands q12q21) are less common. Here we report on an interstitial deletion of less than 1.8 Mb within chromosomal band 18q12.3. The phenotypic features of the propositus correspond well with those observed in patients with larger cytogenetically detectable deletions encompassing chromosome band 18q12.3. The deletion enabled us to define a critical region for the following features of the del(18)(q12.2q21.1) syndrome: hypotonia, expressive language delay, short stature, and behavioral problems.
Language
French
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Publication
Bognor Regis : 2008
ISSN
1552-4825 [print]
1552-4833 [online]
Volume/pages
146:10(2008), p. 1330-1334
ISI
000255491200015
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 30.05.2012
Last edited 30.05.2017