title: Identification of the origin of marker chromosomes by two-color fluorescence in situ hybridization and polymerase chain reaction in azoospermic patients.
abstract: Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoospermia, two-color fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were carried out. The marker chromosomes for the two patients with azoospermia originated in the Y chromosome; it was ascertained that the karyotype of both patients was 46,X, ish del(Y)(q11)(DYZ3+, DXZ1-). The combination of two-color FISH and PCR techniques is an important method for the identification of the origin of marker chromosomes. Thus, genetic counseling and a clear genetic diagnosis of patients with azoospermia before intracytoplasmic sperm injection or other clinical managements are important.
authors.affiliation: Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China.
authors.forename: C L
authors.initials: CL
authors.lastname: Wei
authors.affiliation: Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China.
authors.forename: J L
authors.initials: JL
authors.lastname: Cheng
authors.affiliation: Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China.
authors.forename: W C
authors.initials: WC
authors.lastname: Yang
authors.affiliation: Insistitute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan Province, China.
authors.forename: L Y
authors.initials: LY
authors.lastname: Li
authors.affiliation: Insistitute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan Province, China.
authors.forename: H C
authors.initials: HC
authors.lastname: Cheng
authors.affiliation: Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China fujunjiang@hotmail.com.
authors.forename: J J
authors.initials: JJ
authors.lastname: Fu
mesh_terms: D053713:Azoospermia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male; D059785:Karyotype; D008297:Male; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology