A Cytogenetic Study of 92 Korean Patients with Down's Syndrome

Kim,  Chung-Hoon; Oh,  Sun-Kyung; Kim,  Jung-Koo; Moon,  Shin-Yong; Lee,  Jin-Yong; Chang,  Yoon-Seok

Original Article

Korean Journal of Fertility and Sterility 1986;13(2):145-151.

Chung-Hoon Kim, Sun-Kyung Oh, Jung-Koo Kim, Shin-Yong Moon, Jin-Yong Lee, Yoon-Seok Chang

Department of Obstetrics and Gynecology, College of Medicine, Seoul National University

Down's Syndrome(몽고증)의 세포유전학적 연구

김정훈, 오선경, 김정구, 문신용, 이진용, 장윤석

서울대학교 의과대학 산부인과학교실

Abstract

The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.