OBJECTIVETo analyze main clinical manifestations and cytogenetic characteristics of patients with a 45,X/46,XY karyotype.

METHODSG-banding karyotype analysis was carried out. PCR was performed to detect azoospermia factor (AZF) microdeletion in adult male patients and sex-determining region on Y chromosome (SRY) gene in all patients. Clinical phenotype and genetic characteristics were summarized.

RESULTSAmong the 9 individuals with 45,X/46,XY, there have been 7 males and 2 females. Six out of the 7 males have manifested primary infertility, which included 5 with azoospermia, 1 with oligospermia, and 1 with hypospadia. Three of the 6 infertile patients were found to have AZF microdeletions. Two females showed typical Turner syndrome. All of the 9 cases were SRY-positive.

CONCLUSIONThe 45,X/46,XY karyotype may result in a range of phenotypes. No correlation has been found between clinical manifestations and proportion of mosaicism cells for their peripheral blood karyotypes. As phenotypically normal male patients may produce sperm, infertile patients should undergo further examination at the molecular level.