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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 151 - 154 (4page)
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초록· 키워드
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A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively
well developed and external genitalia showed normal female appearance, but breast development
was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak
gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR,
the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of
46,XY pure gonadal dysgenesis with loss of the SRY. (Korean J Lab Med 2008;28:151-4)
목차
등록된 정보가 없습니다.
참고문헌 (24)
참고문헌 신청
Berkovitz GD / 1991 / Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation / Medicine (Baltimore) 70 : 375
Berta P / 1990 / Genetic evidence equating SRY and the testis-determining factor / Nature 348 : 448 ~ 450
Blecher SR / 2007 / Genetics of sexual development: a new paradigm / Am J Med Genet A 143 : 3054 ~ 3068
Fechner PY / 1993 / Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis / J Clin Endocrinol Metab 76 : 1248 ~ 1253
Fleming A / 2004 / The endless quest for sex determination genes / Clin Genet 67 : 15 ~ 25
Berta P / 1990 / Genetic evidence equating SRY and the testis-determining factor / Nature 348 : 448 ~ 450
Blecher SR / 2007 / Genetics of sexual development: a new paradigm / Am J Med Genet A 143 : 3054 ~ 3068
Fechner PY / 1993 / Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis / J Clin Endocrinol Metab 76 : 1248 ~ 1253
Fleming A / 2004 / The endless quest for sex determination genes / Clin Genet 67 : 15 ~ 25
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