All issues > Volume 31(8); 1988

Original Article

J Korean Pediatr Soc. 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

Received: August 1, 1988;  Accepted: August 1, 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).

Keywords :Chromosomal aberration, Statistical assessment