45,X / 47,XYY Mosaic Turner Syndrome.
- Author:
Sei Kwang KIM
;
Jae Wook KIM
;
Young Ho YANG
;
Hyun Joo KIM
;
Hyoung Jin MO
;
Sang Wook BAI
;
In Kyu KIM
- Publication Type:Case Report
- Keywords:
45,X/47,XYY mosaicism;
SRY gene;
gonadectomy;
XYY;
SRY
- MeSH:
Adult;
Amenorrhea;
Christianity;
Chromosome Disorders;
Cytogenetic Analysis;
Female;
Genes, sry;
Gonadoblastoma;
Humans;
Mosaicism;
Turner Syndrome*
- From:Korean Journal of Obstetrics and Gynecology
2000;43(1):118-123
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.
