title: Constitutional mosaic trisomy 21 and azoospermia: a case report.
abstract: Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient's azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.
authors.affiliation: Department of Pathology and Genetics, US Labs, Irvine, CA 92602, USA. ghlu2003@yahoo.com
authors.forename: Guo-hui
authors.initials: GH
authors.lastname: Lu
authors.forename: Janice G
authors.initials: JG
authors.lastname: Edwards
authors.forename: Gail
authors.initials: G
authors.lastname: Whitman-Elia
authors.forename: Tian-jian
authors.initials: TJ
authors.lastname: Chen
authors.forename: Ed
authors.initials: E
authors.lastname: Ambruzs
authors.forename: Robert G
authors.initials: RG
authors.lastname: Best
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000150:complications* / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism