title: Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome.
abstract: The objective of this study was to elucidate the cause of the spermatogenic defect in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome. Genomic DNAs from 9 cases of Korean idiopathic azoospermia and 6 of Korean non-mosaic type of Klinefelter syndrome were used for the detection of Y chromosome microdeletions by polymerase chain reaction using 60 primers. Microdeletions of the Y chromosome were found in 1 of 9 (11.1%) patients with idiopathic azoospermia, whereas none was deleted in non-mosaic type of Klinefelter syndrome. This result suggests that Y chromosome microdeletions could be one of the etiologic factors in idiopathic azoospermia.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Korea University Anam Hospital, Seoul.
authors.forename: Y H
authors.initials: YH
authors.lastname: Lee
authors.forename: T
authors.initials: T
authors.lastname: Kim
authors.forename: M H
authors.initials: MH
authors.lastname: Kim
authors.forename: Y T
authors.initials: YT
authors.lastname: Kim
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
mesh_terms: D018628:Gene Dosage; D006801:Humans; D007713:Klinefelter Syndrome / Q000145:classification / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000145:classification / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D016324:Sequence Tagged Sites; D013091:Spermatogenesis; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics*