Journal of the Korean Pediatric Society 2002;45(3):311-319.
Published online March 15, 2002.
Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations
Hyeon Kyoung Jeong1, Eun Young Ahn1, Sung Soo Rim1, Eun Young Kim1, Kyoung Sim Kim1, Yong Wook Kim1, Ki Bok Kim2
1Department of Pediatrcis, Kwangju Christian Hospital, Kwangju, Korea
2Department of Pediatrcis, Sangmu Hospital, Kwangju, Korea
염색체이상을 의심한 1,180례의 염색체 분석 결과 검토
정현경1, 안은영1, 임성수1, 김은영1, 김경심1, 김용욱1, 김기복2
1광주기독병원 소아과
2상무병원 소아과
Correspondence: 
Hyeon Kyoung Jeong, Email: pediatric-jhk@hanmail.net
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 & 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.
Key Words: Chromosomal aberration, Distribution


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