45,X / 47,XYY Mosaic Turner Syndrome / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 118-123, 2000.
Article
in Korean
| WPRIM
| ID: wpr-204488
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Turner Syndrome
/
Christianity
/
Gonadoblastoma
/
Chromosome Disorders
/
Cytogenetic Analysis
/
Genes, sry
/
Amenorrhea
/
Mosaicism
Limits:
Adult
/
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
2000
Type:
Article
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