title: Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
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.
authors.affiliation: Department of Biomedical Science, National Institute of Health, Seoul, Korea.
authors.forename: S S
authors.initials: SS
authors.lastname: Kim
authors.forename: S C
authors.initials: SC
authors.lastname: Jung
authors.forename: H J
authors.initials: HJ
authors.lastname: Kim
authors.forename: H R
authors.initials: HR
authors.lastname: Moon
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D007446:Chromosome Inversion; D002896:Chromosomes, Human, Pair 6; D004314:Down Syndrome / Q000453:epidemiology* / Q000235:genetics*; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000453:epidemiology / Q000235:genetics; D007723:Korea / Q000453:epidemiology; D008297:Male; D009030:Mosaicism; D015995:Prevalence; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000453:epidemiology* / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome