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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Anal Canal / abnormalities
  • Chromosome Breakage
  • Comparative Genomic Hybridization
  • Esophagus / abnormalities
  • Fanconi Anemia / complications*
  • Fanconi Anemia / diagnosis
  • Fanconi Anemia / genetics*
  • Fanconi Anemia Complementation Group Proteins / genetics*
  • Fatal Outcome
  • Gene Deletion*
  • Heart Defects, Congenital / complications*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Kidney / abnormalities
  • Limb Deformities, Congenital / complications*
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • Male
  • Receptors, Glycine / genetics
  • Spine / abnormalities
  • Trachea / abnormalities

Substances

  • FANCB protein, human
  • Fanconi Anemia Complementation Group Proteins
  • GLRA2 protein, human
  • Receptors, Glycine

Supplementary concepts

  • VACTERL association