J Korean Med Sci.  1999 Aug;14(4):373-376. 10.3346/jkms.1999.14.4.373.

Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases

• Kim SS
• Jung SC
• Kim HJ
• Moon HR
• Lee JS

• KMID: 1731309
• DOI: http://doi.org/10.3346/jkms.1999.14.4.373

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.

Keyword

Chromosomal abnormalities; Cytogenetics; Down syndrome; Turner's syndrome; Inversion(genetics)

MeSH Terms

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