48XXXY 염색체 구조를 보이는 Klinefelter’s 증후군 1례
A Case of 48XXXY Klinefelter’s Syndrome
소속 상세정보
조재필/Cho JP
김동선/조재흥/김세경/Kim DS/Cho JH/Kim SK
KMID : 0358319860270050786
Abstract
There are many variant forms in Klinefelter’s syndrome which is characterized by azoospermia, gynecomastia, a variable degree of enuchoidism, elevated urinary gonadotropins, atrophic testis and hyalinization of the seminiferous tubules.
Among these, 48XXXY from is known as rare variants of Klinefelter’s syndrome which had been reported about 50 cases.
48 XXXY Klinefelter’s syndrome is composed of more severe physical abnormality and more multiple symptom and signs than classic Klinefelter’s syndrome.
We have reported a case of 48 XXXY Klinefelter’s syndrome associated with ophthalmic problems and mild mental retardation in 20 year old Korean male.
키워드
염색체이상; 클라인펠터증후근; 48XXXY Klinefelter’s syndrome
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