| De novo microduplication at 22q11.21 in a patient with VACTERL association. | |
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MedLine Citation:
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PMID: 20849991 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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The non-random association of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with esophageal atresia (TE), renal malformations (R), and limb defects (L) is termed VACTERL association. The aim of the present study was to identify microaberrations characterized by a loss or gain of genomic material that contribute to VACTERL association at a genome-wide level. Molecular karyotyping was performed in a cohort of 12 patients with anorectal malformations and at least two additional cardinal features of the VACTERL association. A de novo microduplication at chromosomal region 22q11.21 was identified in a patient presenting with three cardinal VACTERL features (V, A, R) and vesicoureteral reflux, penile hypospadias, caudal regression syndrome, and right-sided congenital equinovarus deformity. Chromosomal region 22q11.2 is known for its susceptibility to rearrangements. Associated syndromes include the velo-cardio-facial and DiGeorge deletion syndromes, and the complementary 22q11.2 duplication syndrome. The findings of the present study extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that it also predisposes to VACTERL association. We discuss the overlap between the phenotypic features of our patient and those reported for other 22q11.2 aberrations, and propose that dosage-sensitive loci for all of these phenotypic features may reside on 22q11.2. |
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Authors:
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Charlotte Schramm; Markus Draaken; Enrika Bartels; Thomas M Boemers; Stefan Aretz; Felix F Brockschmidt; Markus M Nöthen; Michael Ludwig; Heiko Reutter |
Publication Detail:
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Type: Journal Article Date: 2010-09-16 |
Journal Detail:
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Title: European journal of medical genetics Volume: 54 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2011 Jan-Feb |
Date Detail:
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Created Date: 2011-02-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 9-13 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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