터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예
A Case of Two SRY Genes in a Tuner's Syndrome Feature
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
.
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.
참고문헌 (16)
- Doerr HG, "Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-Up Study 2001", Hum Reprod, 20, pp.1418~1421 (2001)
- Ford CE, "A sex-chromosome anomaly in a case of gonadal dysgenesis(Turner's syndrome)", Lancet, 1(7075), pp.711~713 (1959)
- Godoy Assumpção J, "Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient", Am J Med Genet, 91, pp.95~98 (2000)
- Harley VR., "The molecular action of testisdetermining factors SRY and SOX-9", Novartis Found Symp, 244, pp.57~66 (2002)
- 김윤식, "광주기독병원 30년간 세포유전학적 검사결과의 고찰", 대한임상검사과학회지, 36(2), pp.205~209 (2004), 대한임상검사과학회
- Kohn B, "Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis", Ann Genet, 40, pp.10~13 (1997)
- Michiels I, "Inguinal hernia repair leading to the diagnosis of internal male pseudohermaphroditism", Acta Chir Belg, 84(4), pp.255~258 (1984)
- Müller J, "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients:point-mutation in SRY causing sex-reversion in a 46,XY female", J Clin Endocrinol Metab, 75(1), pp.331~333 (1992)
- Nihoul-Fékété C, "Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients", J Urol, 175(5), pp.1878~1884 (2006)
- Ogata T, "Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features", Hum Genet, 95, pp.607~629 (1995)
- ParK SH, "Pseudoisodicentric X chromosome in a female with primary amenorrhea", J Kor Soc Medical Genetics, 5(1), pp.61~64 (2008)
- Rovet JF., "The psychoeducational characteristics of children with Turner syndrome", J Learn Disabil, 26(5), pp.333~341 (1993)
- Sinclair AH, "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif", Nature, 346(6281), pp.240~244 (1990)
- Stankiewicz P, "Cytogenetic and molecular characterization of two isodicentric Y chromosomes", Am J Med Genet, 101, pp.20~25 (2001)
- Sybert VP, "Turner's syndrome", N Engl J Med, 351(12), pp.1227~1238 (2004)
- Wallis MC, "Sex determination in mammals-before and after the evolution of SRY", Cell Mol Life Sci, 65(20), pp.3182~3195 (2008)