title: 45,X karyotype in an infertile man: how is this possible?
abstract: The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.
authors.affiliation: Human Reproduction and Genetics Center, Faculdade de Medicina do ABC, Santo André, Brazil.
authors.forename: Aline
authors.initials: A
authors.lastname: Amaro
authors.forename: Fernanda Abani
authors.initials: FA
authors.lastname: Mafra
authors.forename: Caio Eduardo
authors.initials: CE
authors.lastname: Valada Pane
authors.forename: Leslie D
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005298:Fertility / Q000235:genetics*; D050174:Genetic Diseases, Y-Linked / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D025202:Molecular Diagnostic Techniques; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011379:Prognosis