title: 45,X/46,X,r(Y)/46,X,dic r(Y) karyotype in an azoospermic male: a case report.
abstract: Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic defects in such patients. Here, we report an unusual karyotype of 45,X/46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X cell line, mosaicism of the 3 cell lines, or another unknown cause. In such cases, if the couple wishes to reproduce, cytogenetic, molecular and fluorescent in situ hybridization evaluations should be performed, and preimplantation genetic diagnosis should be used together with assisted reproductive technology.
authors: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Changchun, PR China.
authors: Y
authors: Y
authors: Dong
authors: X W
authors: XW
authors: Yu
authors: R X
authors: RX
authors: Wang
authors: L L
authors: LL
authors: Li
authors: Y T
authors: YT
authors: Jiang
authors: R Z
authors: RZ
authors: Liu
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D008297:Male; D012303:Ring Chromosomes; D012661:Semen; D055101:Semen Analysis; D012729:Sex Chromosome Aberrations; D013091:Spermatogenesis / Q000235:genetics