유전학 연구실에 의뢰된 환자에 대한 염색체 연구

Abstract

[한글]

저자는 1974년 1월부터 1975년 8월말까지 1년 8개월간 연세대학교 외과대학 부속 세브란스 병원에 입원하여 가료를 받았던 환자와 외래환자 중에서 유전적 질환이 의심되는 81예에 대하여 염색체 검사를 실시한 결과 37예의 이상을 얻었다. 그중 Down's syndrome 이

13예, Turner's syndrome 이 4예. Klelnefelter's syndrome이 2예. Sex anomaly가 19예로 나타났으며 전체적으로 나타난 핵형의 종류는 다음과 같다.

1. Down's Syndrome은 Primary 21 trisomy와 mosaic type의 2가지가 보여졌다.

2. Turner's syndrome은 45,X ; 46,XX/45,X ; 44,X,-G/45,X의 3가지 핵형이 있었다.

3. Kleinefelter's syndrome에서 47,XXY와 48,XXYY가 보여졌다.

4. Sex anomaly에는 XY-female과 XX-male 등이 보였다.

Chromosomal Study on Patients of Genetics Laboratory

Young Jae Hong, M.D.

Department of Medical Science The Graduate School, Yonsei University

(Directed by Professor Hyun Mo Kwak, M.D.)

The numerical and structural aberrations of chromosomes were analysed from 81

patients who had been doubted as genetic disease in the Genetics Laboratory, Yonsei

University Medical Center from Jan. 1, 1974 to Aug. 31, 1975.

Out of the 81 patients, 39 had the abnormal kartotypes. 13 cases of Down's

syndrome, 4 cases of Turner's syndrome, 2 cases of Kleinefelter's syndrome and 19

cases of sex anomaly were found.

All kindssof karyotypes observed were ;

1) Down's syndrome: Primary 21 trisomy type and mosaic type.

2) Turner's syndrome: 45, X, 46, XX/45, X and 44, X, -G/45,X.

3) Kleinefelter's syndrome: 47, XXY and 48, XXYY.

4) Sex anomaly: XY female and XX-male etc.

[영문]

The numerical and structural aberrations of chromosomes were analysed from 81 patients who had been doubted as genetic disease in the Genetics Laboratory, Yonsei University Medical Center from Jan. 1, 1974 to Aug. 31, 1975.

Out of the 81 patients, 39 had the abnormal kartotypes. 13 cases of Down's syndrome, 4 cases of Turner's syndrome, 2 cases of Kleinefelter's syndrome and 19 cases of sex anomaly were found.

All kindssof karyotypes observed were ;

1) Down's syndrome: Primary 21 trisomy type and mosaic type.

2) Turner's syndrome: 45, X, 46, XX/45, X and 44, X, -G/45,X.

3) Kleinefelter's syndrome: 47, XXY and 48, XXYY.

4) Sex anomaly: XY female and XX-male etc.