45,X / 47,XYY Mosaic Turner Syndrome. |
Sei Kwang Kim, Jae Wook Kim, Young Ho Yang, Hyun Joo Kim, Hyoung Jin Mo, Sang Wook Bai, In Kyu Kim |
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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. |
Key Words:
45,X/47,XYY mosaicism, SRY gene, gonadectomy, XYY, SRY |
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