J Korean Pediatr Soc.  2002 Mar;45(3):311-319.

Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations

• Jeong HK
• Ahn EY
• Rim SS
• Kim EY
• Kim KS
• Kim YW
• Kim KB

Abstract

PURPOSE: We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea.
METHODS
We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental and growth retardation were included.
RESULTS
The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations(78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome.
CONCLUSION
It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Keyword

Chromosomal aberration; Distribution

MeSH Terms

Abnormalities, Multiple
Chromosome Aberrations*
Disorders of Sex Development
Down Syndrome
Female
Fragile X Syndrome
Gwangju
Humans
Klinefelter Syndrome
Korea
Male
Molecular Biology
Turner Syndrome