Korean J Obstet Gynecol.  2000 Jan;43(1):118-123.

45,X / 47,XYY Mosaic Turner Syndrome

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.

Keyword

45,X/47,XYY mosaicism; SRY gene; gonadectomy; XYY; SRY
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