All issues > Volume 30(6); 1987

Original Article

J Korean Pediatr Soc. 1987;30(6):633-639. Published online June 30, 1987.

Cytogenetic Study on Chromosome Aberration in Children.

Chong Woo Bae¹, Chang Il Ahn¹, Bo Hoon Oh², Kap Soon Ju²

¹Department of Pediatrics, School of Medicine, Kyung Hee University
²Cytogenetic Lab., Department of Obstet. and Gyneco,School of Medicine, Kyung Hee University

Abstract

We have conducted a retrospective study on chromosomal aberrations in children, aged under 15 years old, who had been refered to cytogenetic laboratory at Kyung Hee University Hospital from 1977 to 1986 Base upon the Karyotypes of lymphocytes and chart records, the following results were obtained; 1) Chromosomal aberrations of various types were found in 101 cases in children. 2) Age distribution revealed 65.3% were under the 1 year of age. 3) Sex distribution revealed male to female ratio to be 1.3: 1. One case of intersex was observed. 4) Autosomal aberrations were found in 88 cases (87.1%), sex chromosomal aberrations were found in 13 cases (12.9%). 5) In order of frequency, 75 cases (73.4%) of Down syndrome, 9 cases (8.9%) of Turner syndrome,6 cases (5.9%) of translocation (except translocated type of Down syndrome), 3 cases of Edward syndorme, 3 cases of deletion type, etc were observed. 6) Among the 75 cases of Down syndrome, the most frequent karyotype revealed 65 cases (86.7%) of 21-trisomy, followed by 7 cases (9.3%) of translocation and 3 cases (4.0%) of mosaicism. 7) Two cases of Philadelphia chromosome in patient of chronic myelogenous leukemia and 2 cases of reciprocal translocation (eg, t (3: 13), t (4: 14) in patient of acute nonlymphoblastic leukemia (M2type) were observed.

Keywords :Chromosomal aberration; Karyotype