title: Increased sperm aneuploidy in two male carriers of germline TP53 mutations.
abstract: Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome characterized by a broad spectrum of tumors. The disorder is caused by germline mutations in the TP53 gene. We studied chromosomes in the sperm of two male carriers of TP53 mutations. We observed increased sperm aneuploidy, mainly concerning the gonosomes when compared to four normal male controls. This observation may correlate with the involvement of the p53 protein in spermatogenesis, with its role in aneuploidy in cancer, and with the occurrence of two cases of Turner syndrome in families with germline TP53 mutations reported in the literature.
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Paulasova
authors.forename: Jan
authors.initials: J
authors.lastname: Diblik
authors.forename: Marie
authors.initials: M
authors.lastname: Trkova
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sedlacek
mesh_terms: D000328:Adult; D000782:Aneuploidy; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D017403:In Situ Hybridization; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D013076:Sperm Count; D013094:Spermatozoa; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53