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A survey of chromosome studies in 466 cases.

Journal of the Korean Pediatric Society 1985;28(2):160-168.
Published online February 28, 1985.
A survey of chromosome studies in 466 cases.
In Sung Lee, Cheol seung Son, Ki Bok Kim
Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
염색체 분석 검사 466례의 결과 검토
이인성, 손철승, 김기복
광주기독병원 소아과
Abstract
The results of chromosomal studies performed at the Dept, of Pediatrics, Kwangju Christian Hospital from March 1974 to May 1984 were analyzed as to the clinical categories. Out of total 514 cases subjected to chromosomal studies, karyotype patterns were obtained in 466 cases, the success rate reaching 91%. Fifty two percent of all cases subjected to karyotype analysis were under one year of age. The sex ratio of male to female being 1.5 : 1, and 428 cases had clinical abnormalities or symptoms while 38 were suspected carriers. Chromosomal anomalies of various types were found in 215 cases. Autosomal aberrations were found in 176 cases, and Down syndrome was by far the most frequently observed anomaly, with 158 cases among the 179 clinically suspected. Of 18 cases clinically suspected of Edwards syndrome, only 11 revealed to have E-group chromosomal aberration. D-group syndrome was found in 6 cases and Cri-du-chat syndrome was confirmed in one case. Sex chromosomal aberrations were found in 21 cases. Turner syndrome was confirmed in 14 cases and Klinefelter in 7 patients. Only 16 out of 180 cases who had clinical problems such as hematologic disorder, minor sexual deformity, multiple minor congenital defects, growth retardation, and mental retardation, revealed some aberrations of karyotype pattern. The most frequent karyotype found in Down syndrome was 21-trisomy(84.2%), followed by translocation(13.3%) and mosaicism(1.9%). Two among 38 suspected carrier of Down syndrome had chromosomal aberration. The maternal age at the delivery of Down syndrome baby was under 29 years in 47%, between 30 to 39 years in 32%, and over 40 years in 21%. Considering that the birth rate decreases as mothers get older, it is clear that the incidence of Down syndrome increases sharply with increasing maternal age.
Key Words: Chromosomal analysis, Karyotype


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