PMID- 19133129 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20121002 LR - 20220310 IS - 1757-1626 (Electronic) IS - 1757-1626 (Linking) VI - 2 IP - 1 DP - 2009 Jan 8 TI - Male infertility related to an aberrant karyotype, 47,XYY: four case reports. PG - 28 LID - 10.1186/1757-1626-2-28 [doi] AB - BACKGROUND: 47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility. CASE REPORT: We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of the peripheral blood lymphocytes demonstrated the constitutional karyotype of 47, XYY. Using fluorescence in situ hybridization (FISH) the presence of extra Y chromosome was confirmed, supporting the cytogenetic finding. CONCLUSION: The 47,XYY syndrome is relatively uncommon and can be missed clinically because of its variable clinical presentations. Accurate diagnosis of this constitutional karyotype provides a valuable aid in the counselling and early management of the patients who undertake fertility evaluation. FAU - El-Dahtory, Faeza AU - El-Dahtory F AD - The School of Veterinary Medicine and Science, The University of Nottingham, Sutton Bonington Campus, Loughborough, Leicestershire, LE12 5RD, UK. hany.elsheikha@nottingham.ac.uk. FAU - Elsheikha, Hany M AU - Elsheikha HM LA - eng PT - Journal Article DEP - 20090108 PL - England TA - Cases J JT - Cases journal JID - 101474272 PMC - PMC2631534 EDAT- 2009/01/10 09:00 MHDA- 2009/01/10 09:01 PMCR- 2009/01/08 CRDT- 2009/01/10 09:00 PHST- 2009/01/03 00:00 [received] PHST- 2009/01/08 00:00 [accepted] PHST- 2009/01/10 09:00 [entrez] PHST- 2009/01/10 09:00 [pubmed] PHST- 2009/01/10 09:01 [medline] PHST- 2009/01/08 00:00 [pmc-release] AID - 1757-1626-2-28 [pii] AID - 10.1186/1757-1626-2-28 [doi] PST - epublish SO - Cases J. 2009 Jan 8;2(1):28. doi: 10.1186/1757-1626-2-28.