title: [Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].
abstract: Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade. Patients with Fanconi anemia have a high risk of hematologic malignancies and solid tumors. The diagnosis of Fanconi anemia is based on cytogenetic testing for increased rates of spontaneous chromosomal breakage and increased sensitivity to diepoxybutane or mitomycin C. Fanconi anemia is a heterogeneous disorder, at least 15 complementation groups are described, and 15 genes in which mutations are responsible for all of the 15 Fanconi anemia complementation groups have been identified. Unlike other Fanconi anemia complementation groups, for complementation group D1 (FANCD1), the bone marrow failure is not a typical feature, but early-onset leukemia and specific solid tumors, most often medulloblastoma and Wilms tumor, are typical for this complementation group.
authors.forename: A
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: K
authors.initials: K
authors.lastname: Švojgr
authors.forename: D
authors.initials: D
authors.lastname: Novotná
authors.forename: E
authors.initials: E
authors.lastname: Macháčková
authors.forename: D
authors.initials: D
authors.lastname: Sumerauer
authors.forename: P
authors.initials: P
authors.lastname: Smíšek
authors.forename: R
authors.initials: R
authors.lastname: Kodet
authors.forename: M
authors.initials: M
authors.lastname: Kynčl
authors.forename: A
authors.initials: A
authors.lastname: Křepelová
authors.forename: L
authors.initials: L
authors.lastname: Foretová
mesh_terms: D000483:Alleles; D005199:Fanconi Anemia / Q000235:genetics*; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation