title: Familial mosaicism of del(Y) and inv del(Y).
abstract: Molecular cytogenetic investigation of a male proband showing oligozoospermia (OAT I-II degrees ) has led to the detection of a Y-chromosome mosaicism. This mosaicism consists of a deleted Y chromosome with deletion of most of the long-arm heterochromatin, including the PAR2, del(Y), and a Y chromosome, which, in addition to that deletion, shows a paracentric long-arm inversion, inv del(Y), with breakpoints in the DAZ gene cluster in deletion interval 6 and within the remainder of the long-arm heterochromatin of the Y. The Y mosaicism is not confined to the sterile proband but is also detected in both his father and his fertile brother. Interestingly, the percentage of inv del(Y) is highest (80%) in the proband showing oligozoospermia.
authors.affiliation: Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg , Germany.
authors.forename: S
authors.initials: S
authors.lastname: Röttger
authors.forename: J
authors.initials: J
authors.lastname: Pasantes
authors.forename: C
authors.initials: C
authors.lastname: Baldermann
authors.forename: E
authors.initials: E
authors.lastname: Reichl
authors.forename: P
authors.initials: P
authors.lastname: Yen
authors.forename: I
authors.initials: I
authors.lastname: Hansmann
authors.forename: W
authors.initials: W
authors.lastname: Schempp
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008214:Lymphocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009679:Nuclear Family; D009845:Oligospermia / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*