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한국인 선천성 이상질환이 의심되는 환자에 대한 세포유전학적 연구

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 Cytogenetic studies in patients with suspected congenital disorders in Korea 
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[한글]세포유전학의 발달에 따라 한국인에서의 세포유전학적 연구도 많이 진행되어 왔다. 그러나 한국인에 있어서의 세포유전학적 연구는 한국인 집단에 있어서의 정상인의 염색체 연구보고나 유전적질환에 대한 단편적 연구나 증례보고뿐인 실정이다. 이에 저자는 연세 대학교 의과대학부속병원 산부인과 전학연구실에서 1974년 1월부터 1980년 5월까지 428명의 선천성이상질환이 의심되는 환자에 대해서 세포유전학적 연구를 시행한 것을 조사분석하여 다음과 같은 결과를 얻었다. 1) 다운증후군이 76예 였으며 21번 염색체의 3배성이 69예, 모자이시즘이 7예였다. 2) 터너증후군이 13예 였으며, 45, X가 7예, 모자이시즘이 6예였다. 3) 클라인펠터증후군이 17예 였으며 47, XXY가 14예, 46, XY/47, XXY가 2예, 48, XXYY가 1예였다. 4) 원발성무월경이 62예였으며, 60예에서는 46, XX, 2예서는 46, XY를 나타내었다. 5) 간성이 75예였으며, 정상 염색체양상을 나타내었다. 6) 뇌성마비아동이 95예였으며 모두 정상 염색체양상을 나타내었다. 7) 생식기관이외에 선천성 기형이 있었던 경우가 81예였으며 모두 정상 염색체양상을 나타내었다. 8) 에드워드증후군이 1예였으며, 47, XY, +18의 염색체양상을 나타내었다. 9) Cri du Chat증후군이 1예였으며. 45, XX, 5P**-의 염색체양상을 나타내었다. 10) 기타 종질중격과 중복자궁이 각각 2예씩 있었으며 정상 염색체 양상을 나타내었다.
[영문]As the cytogenetics developed, cytogenetic study in Korea has also developed prosressively. However, cytogenetic studies in Korea were merely studies on normal chromosome pattern or simple studies of several genetic disorders or case reports. This study is a systematical cytogenetic analysis of 428 cases where congenital disrders were suspected and referred to our cytogenetic laboratory in the Department of Obstetrics and Gynecology, Yonsei University Medical Center, from Jan. 1974 to May 1980. The results were as follows; 1) Down's syndrome was found in 76 cases, consisting of 69 cases(90.79%) of primary 21 trisomy and 7 cases of mosaicism. 2) Turner's syndrome was found in 13 cases, consisting of 7 cases (53.85%) of 45, X and 6 cases of mosaicism. 3) Klinefelter's syndrome was found in 17 cases, consisting of 14 cases (82.35%) of 47, XXY, 2 cases of 46, XY/47, XXY and 1 cage of 48, XXYY. 4) Primary amenorrhea was found in 62 cases, consisting of 60 cases (96.78%) of 46, XX and 2 cases of 46, XY. 5) Intersex was found in 75 cases, consisting of 45 cases(60%) of 46, XY and 30 cases of 46, XX. 6) Cerebral palsy was found in 98 cases and all cases were normal karyotype. 7) Congenital anomalies excluding the reproductive organ was found in 81 cases and all cases were normal karyotype. 8) Edward syndrome was found in 1 case, karyotype was 46, XY, +18. 9) Cri du Chat syndrome was found in 1 case, karyotype was 46, XX, 5P**-. 1O) Longitudinal vaginal septum and double uterus were found in 2 cases each and all cases were 46, XX.
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