[Clinical and cytogenetic analysis of 45,X/46,XY individuals].
OBJECTIVE
To analyze main clinical manifestations and cytogenetic characteristics of patients with a 45,X/46,XY karyotype.


METHODS
G-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.


RESULTS
Among 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.


CONCLUSIONS
The 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.
Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital of Jilin University, Department of Cell Biology, Bethune Medical College, Jilin University, Changchun, Jilin 130021, P. R. China. Email: lrz420@126.com.
Lei-lei
LL
Li
Jing
J
Wu
Yuan
Y
Dong
Hai-bo
HB
Zhu
Lin-lin
LL
Li
Rui-zhi
RZ
Liu
D000293:Adolescent; D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D055815:Young Adult