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

Luis A. Umaña, Pilar Magoulas, Weimin Bi, Carlos A. Bacino

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)3071-3074
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
StatePublished - Dec 1 2011

Keywords

  • Array CGH with exonic coverage
  • Diepoxybutane
  • FANCB protein
  • Fanconi anemia
  • Mitomycin
  • Oligonucleotide array CGH
  • VACTERL

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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