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

作者：Umana Luis A; Magoulas Pilar; Bi Weimin; Bacino Carlos A^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(12): 3071-3074.

DOI：10.1002/ajmg.a.34296

• Fanconi anemia
• FANCB protein
• diepoxybutane
• mitomycin
• oligonucleotide array CGH
• VACTERL
• array CGH with exonic coverage

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.

• 出版日期2011-12