title: Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient.
abstract: The success of infertility treatment depends on the underlying cause and severity of the infertility problem. The current report addresses the complex genotype-phenotype interactions in an azoospermic man. Cytogenetic, molecular cytogenetic and molecular genetic studies indicated the derivative monocentric Y chromosome with duplication of Yp11 (including SRY gene) and partial deletion of Yq11 (including azoospermia factor - AZFb-c regions) as the most probable cause of the severe testicular failure. Our study emphasizes the importance of detailed genetic analysis in male infertility evaluation and helps to estimate the outcome of infertility treatment.
authors.affiliation: Nova Vita Clinic, Centre for Infertility Treatment and Medical Genetics, Viimsi, Harjumaa, Estonia.
authors.forename: T
authors.initials: T
authors.lastname: Roovere
authors.forename: M
authors.initials: M
authors.lastname: Peters
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: T
authors.initials: T
authors.lastname: Mölter-Väär
authors.forename: M
authors.initials: M
authors.lastname: Punab
authors.forename: S
authors.initials: S
authors.lastname: Rootsi
authors.forename: O
authors.initials: O
authors.lastname: Poolamets
authors.forename: A
authors.initials: A
authors.lastname: Salumets
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D020440:Gene Duplication; D006801:Humans; D008297:Male