title: An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.
abstract: We report on a 36-year-old infertile woman, presenting a premature ovarian failure with an otherwise normal female phenotype. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, that was characterized by FISH (fluorescent in situ hybridization) and array CGH (comparative genomic hybridization). This marker chromosome was derived from chromosome 15, and contained only heterochromatic material. The Prader Willi/Angelman region was not present. No duplications of the 15q regions were detected by array CGH. Supernumerary markers of chromosome 15 have been reported in cases of infertility and amenorrhea, that is also described in cases with marker derived by other acrocentric chromosomes. The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes.
authors.affiliation: Cytogenetic and Molecular Genetic Unit, Children Department, A.O.U. Pisana, S. Chiara Hospital, Pisa, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.forename: David
authors.initials: D
authors.lastname: Viola
authors.forename: Paolo
authors.initials: P
authors.lastname: Vitti
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007247:Infertility, Female / Q000235:genetics*; D007621:Karyotyping; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: D005819:Genetic Markers