Publication
Title
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the **OPHN1** gene on Xq12
Author
Abstract
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.
Language
English
Source (journal)
European journal of medical genetics. - Paris
Publication
Paris : 2007
ISSN
1769-7212
Volume/pages
50:6(2007), p. 446-454
ISI
000251999800006
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 01.06.2012
Last edited 15.07.2017