All issues > Volume 45(3); 2002

Original Article

J Korean Pediatr Soc. 2002;45(3):311-319. Published online March 15, 2002.

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

Hyeon Kyoung HK Jeong¹, Eun Young EY Ahn¹, Sung Soo SS Rim¹, Eun Young EY Kim¹, Kyoung Sim KS Kim¹, Yong Wook YW Kim¹, Ki Bok KB Kim²

¹Department of Pediatrcis, Kwangju Christian Hospital, Kwangju, Korea
²Department of Pediatrcis, Sangmu Hospital, Kwangju, Korea

Correspondence Hyeon Kyoung HK 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.

Keywords :Chromosomal aberration, Distribution