Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
10.3346/jkms.1999.14.4.373
- Author:
Sung Soo KIM
1
;
Sung Chul JUNG
;
Hyon Ju KIM
;
Hae Ran MOON
;
Jin Sung LEE
Author Information
1. Department of Biomedical Science, National Institute of Health, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Chromosomal abnormalities;
Cytogenetics;
Down syndrome;
Turner's syndrome;
Inversion(genetics)
- MeSH:
Adolescence;
Chromosomes, Human, Pair 6;
Down Syndrome/genetics*;
Down Syndrome/epidemiology*;
Family Health;
Female;
Gene Deletion;
Human;
Infant, Newborn;
Inversion (Genetics);
Karyotyping;
Klinefelter's Syndrome/genetics;
Klinefelter's Syndrome/epidemiology;
Korea/epidemiology;
Male;
Mosaicism;
Prevalence;
Translocation (Genetics);
Turner's Syndrome/genetics*;
Turner's Syndrome/epidemiology*;
X Chromosome;
Y Chromosome
- From:Journal of Korean Medical Science
1999;14(4):373-376
- CountryRepublic of Korea
- Language:English
-
Abstract:
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases.
