Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Details

Serval ID
serval:BIB_0711E7097232
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
Journal
European Journal of Human Genetics
Author(s)
Anderlid B.M., Schoumans J., Hallqvist A., Ståhl Y., Wallin A., Blennow E., Nordenskjöld M.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Publication state
Published
Issued date
2003
Volume
11
Number
1
Pages
89-92
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Abstract
Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. However, her cognitive functions were within the normal range. Detailed FISH analysis with 20 BAC probes covering the distal 6p25 region estimated the size of the terminal deletion to 2.1 Mb, and thus this case narrows down the critical region for the 6p phenotype. The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function.
Keywords
Abnormalities, Multiple/genetics, Child, Preschool, Chromosomes, Human, Pair 6/genetics, DNA-Binding Proteins, Face/abnormalities, Female, Forkhead Transcription Factors, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Language Disorders/genetics, Male, Sequence Deletion, Transcription Factors/genetics
Pubmed
Web of science
Open Access
Yes
Create date
17/09/2011 10:59
Last modification date
20/08/2019 13:29
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