Journal of Korean Medical Science.1999;14(4):373-376. doi:10.3346/jkms.1999.14.4.373
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.
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