논문KCI 등재
Y 염색체 미세결실을 동반한 46,X,inv(Y)/45,X 핵형을 보이는 터너증후군 1예
A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion
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참고문헌
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주제분류산부인과학
초록
=46,X,inv(Y)/45,X 모자이시즘은 현재까지 매우 드문 성염색체 질환이다. 저자들은 표현형 여성, 원발성 무월경, 이차성징 발육부전을 보이는 29세 여성에서 말초혈액을 이용한 GTG-banding 핵형검사상 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] 모자이시즘을 확인하였고, X/Y 염색체 형광동소보합법 결과 ish (SRY-,DYZ3-)[16]/ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4]로서 Y 염색체의 미세결실과 전도가 동시에 있음이 진단되었다. 이러한 핵형은 터너증후군의 매우 드문 형태이므로, 간단한 문헌 고찰과 함께 보고하는 바이다.
참고문헌 (20)
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