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Statistical Assessment on Chromosomal Aberrations observed on Childhood.

Journal of the Korean Pediatric Society 1988;31(8):977-983.
Published online August 31, 1988.
Statistical Assessment on Chromosomal Aberrations observed on Childhood.
Seong Ho Kim1, Jeh Hoon Shin1, Soo Jee Moon1, Hahng Lee1, KeunSoo Lee1, Youl Hey Cho2, Myung So Ryu2, Young Kyun Paik2
1Department of Pediatrics, College of Medicine, Hanyang Uniersity, Seoul, Korea
2Department of Genetics, College of Medicine, Hanyang Uniersity, Seoul, Korea
소아기 염색체 이상에 관한 통계적 고찰
김성호1, 신재훈1, 문수지1, 이항1, 이근수1, 조율희2, 류명수2, 백용균2
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 유전학교실
Received: 1 August 1988   • Accepted: 1 August 1988
Abstract
Chromosomal studies were carried out in 730 patients at the Dept, of Pediatrics and Genetics, Hanyang University Hospital, form December 1979 to April 1986. A statistical assessment was carried out in 244 cases who have chromosomal aberrations. The following results were obtained: 1) Chromosomal aberrations were observed in 244 cases among 730 cases, so the propotion of chromosomal aberrations was 33%. 2) Age distribution revealed 53% of chromosomal aberrations to be under 1 year. 3) Sex distribution revealed boy to girl ratio to be 1.2:1. 4) In children with Down syndrome, Edwards syndrome Turner syndrome, Kleinefelter syndrome, hermaphroditism, hematooncologic disease, mental and growth retardation and multiple congenital defects, chromosomal aberrations were observed in 78%. 86%, 58%, 60%, 29%, 43%, 17% and 8% respectively. 5) The most freguent karyotype revealed in Down syndrome was 21-trisony type (89.3%), followed by mosaicism type (8.4%) and trauslocation type (2.3%). 6) The most frequent karyotype revealed in Turner syndrome was 45,X (36.4%), followed by 46, X, i (Xq) including mosaics (27.2%), 45,X/46,XX (18.2%), and 45,X/46,XY (18.2%). 7) The most frequent karyotype revealed in hermaphroditism was 46,XY (3 cases), followed by 46, XX/46,XY/47,XXY (2 cases), 46,XX (1 case) and 45,X/46,XY (1 case).
Key Words: Chromosomal aberration, Statistical assessment


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