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

Sung Soo Kim, Sung Chul Jung, Hyon Ju Kim, Hae Ran Moon, Jin Sung Lee

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33 Scopus citations

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.

Original languageEnglish
Pages (from-to)373-376
Number of pages4
JournalJournal of Korean Medical Science
Volume14
Issue number4
DOIs
StatePublished - Aug 1999

Keywords

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

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