Concurrent microdeletion and duplication of 22q11.2.

Details

Serval ID
serval:BIB_6D585F0419F8
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
Concurrent microdeletion and duplication of 22q11.2.
Journal
Clinical Genetics
Author(s)
Blennow E., Lagerstedt K., Malmgren H., Sahlén S., Schoumans J., Anderlid B.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Publication state
Published
Issued date
2008
Volume
74
Number
1
Pages
61-67
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. PDF type: Short Report
Abstract
Microduplication of 22q11.2 has been reported in fewer than 40 cases, all of them including the DiGeorge critical region (DGCR). We here present the characterization of a new duplication that does not include the DGCR. The duplication was initially found by multiplex ligation-dependent probe amplification analysis of 22q11.2 in a young girl with a concurrent deletion of the DGCR in 70% of her peripheral blood lymphocytes. Her phenotype included many of the features of the velocardiofacial syndrome, with velopharyngeal insufficiency, recurrent infections, learning and concentration problems as well as difficulties in social interactions. However, there were no congenital malformations, and her facial appearance was not typical for the syndrome. Further investigations included array comparative genomic hybridization (CGH) to size map the deletion/duplication and interphase fluorescent in situ hybridization to investigate mosaicism and the structure of the rearrangement. An identical duplication of this part of 22q11.2 has not been reported before, and the duplication itself seems to be associated with very mild or no symptoms. This study contributes to the growing knowledge regarding new deletions and duplications of 22q11.2, most of them mediated by the pre-disposing high number of low-copy repeats in the region.
Keywords
Adolescent, Chromosome Deletion, Chromosomes, Human, Pair 22/genetics, DiGeorge Syndrome/genetics, Female, Gene Duplication, Humans, Mosaicism, Nucleic Acid Hybridization
Pubmed
Web of science
Create date
17/09/2011 9:53
Last modification date
20/08/2019 15:26
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