Title
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndromeDelineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Bognor Regis,
Subject
Human medicine
Source (journal)
American journal of medical genetics : part A. - Bognor Regis, 2003, currens
Volume/pages
146(2008):10, p. 1330-1334
ISSN
1552-4825
1552-4833
ISI
000255491200015
Carrier
E
Target language
French (fre)
Full text (Publishers DOI)
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.
E-info
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