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Am J Med Genet A. 2011 Dec;155A(12):3071-4. doi: 10.1002/ajmg.a.34296. Epub 2011 Nov 3.

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

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  • 1Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA.

Abstract

We report on a male newborn with multiple congenital abnormalities consistent with the diagnosis of VACTERL association (vertebral, anal, cardiac, tracheo-esophageal fistula, renal, and limb anomalies), who had Fanconi anemia (complementation group B) recognized by the detection of a deletion in chromosome Xp22.2 using an oligonucleotide array. The diagnosis of Fanconi anemia was confirmed by increased chromosomal breakage abnormalities observed in cultured cells that were treated with cross-linking agents. This is the first report in the literature of Fanconi anemia complementation group B detected by oligonucleotide array testing postnatally.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
22052692
[PubMed - indexed for MEDLINE]
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