title: Effects of transmission of Y chromosome AZFc deletions.
abstract: Deletions of specific regions on the Y chromosome cause male infertility. Recent advances in infertility treatment allow Y chromosome deletions to be transmitted to male offspring with the assumption that there will be no clinical consequences other than infertility in adult life. We screened 12 patients, who had a 45X/46XY karyotype and presented with Turner stigmata or sexual ambiguities, or both, for Y chromosome microdeletions with PCR. A third of these patients had Y chromosome microdeletions of distal Yq, the most common microdeletion seen in infertile men with azoospermia or severe oligozoospermia. Transmission of Y chromosome microdeletions could potentially have severe clinical consequences other than male infertility, such as the development of sexual ambiguities and Turner stigmata.
authors.affiliation: Cyprus Institute of Neurology and Genetics, Cyprus.
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
authors.forename: Lluis
authors.initials: L
authors.lastname: Quintana-Murci
authors.forename: Fatima
authors.initials: F
authors.lastname: Taleb-Bekkouche
authors.forename: Csilla
authors.initials: C
authors.lastname: Krausz
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002872:Chromosome Deletion; D056426:Genetic Loci; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D029589:Seminal Plasma Proteins