Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases
Journal of Korean Medical Science
;
: 373-376, 1999.
Article
in English
| WPRIM
| ID: wpr-171457
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Turner Syndrome
/
X Chromosome
/
Y Chromosome
/
Chromosomes, Human, Pair 6
/
Family Health
/
Prevalence
/
Adolescent
/
Gene Deletion
/
Down Syndrome
Type of study:
Prevalence study
Limits:
Female
/
Humans
/
Male
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
1999
Type:
Article
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