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.