Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

@article{Donovan2016PaternalOM,
  title={Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.},
  author={Frank X. Donovan and Danielle C Kimble and Yonghwan Kim and Francis Peter Lach and Ursula L. Harper and Aparna Kamat and Marypat Jones and Erica M. Sanborn and Rebecca Tryon and John E Wagner and Margaret L Macmillan and Elaine A Ostrander and Arleen D. Auerbach and Agata Smogorzewska and Settara C Chandrasekharappa},
  journal={Human mutation},
  year={2016},
  volume={37 5},
  pages={465-8}
}
Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele. FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem… CONTINUE READING