title: A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
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.
authors: Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors: Luis A
authors: LA
authors: Umaña
authors: Pilar
authors: P
authors: Magoulas
authors: Weimin
authors: W
authors: Bi
authors: Carlos A
authors: CA
authors: Bacino
mesh_terms: D001003:Anal Canal / Q000002:abnormalities; D019457:Chromosome Breakage; D055028:Comparative Genomic Hybridization; D004947:Esophagus / Q000002:abnormalities; D005199:Fanconi Anemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D017809:Fatal Outcome; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018009:Receptors, Glycine / Q000235:genetics; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities
chemical_list: C515775:FANCB protein, human; D051856:Fanconi Anemia Complementation Group Proteins; C439504:GLRA2 protein, human; D018009:Receptors, Glycine