Effects of transmission of Y chromosome AZFc deletions.
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.
Patsalis
Philippos C
PC
Cyprus Institute of Neurology and Genetics, Cyprus.
Sismani
Carolina
C
Quintana-Murci
Lluis
L
Taleb-Bekkouche
Fatima
F
Krausz
Csilla
C
McElreavey
Ken
K
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*
D029589:Seminal Plasma Proteins