Korean Journal of Clinical Laboratory Science (대한임상검사과학회지)
- Volume 42 Issue 3
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- Pages.111-115
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- 2010
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- 1738-3544(pISSN)
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- 2288-1662(eISSN)
A Case of Two SRY Genes in a Tuner's Syndrome Feature
터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예
- Park, Sang-Muk (Department of Biomedical Laboratory Science, Dongkang College University) ;
- Kim, Yoon-Sik (Department of Biomedical Laboratory Science, Dongkang College University)
- Received : 2010.10.29
- Accepted : 2010.12.23
- Published : 2010.12.30
Abstract
A 15-year-old female with primary amenorrhea and Tuner's syndrome feature was referred for a chromosome analysis. The karyotype of the patient was 45,X/46,X,der(Y) mosaicism under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with probe for CEP X probes and SRY probe (Vysis, Inc. Downers Grove, IL 60515, USA) was carried out. This probe is direct labeled with SpectrumOrange (SRY, Yp11.3) and is available as a single probe or mixed with the CEP X SpectrumGreen probe. SRY SpectrumOrange/CEP X SpectrumGreen hybridized to a specimen obtained from an two isodicentric Y chromosomes. The karyotype of the patient was ish Xcen(DXZ1x1)/Xcen(DXZ1x1), Yp11.3(SRYx2) by using FISH. This karyotype was considered a variant of Tuner syndrome with mixed gonadal dysgenesis (MGD), male pseudohermaphroitism (MPH) and apparently normal male.