Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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A Cytogenetic Study of Down's Syndrome

다운증후군의 세포유전학적 연구

  • Moon, S.Y. (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Park, J.S. (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Choe, J. (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University) ;
  • Ko, H.J. (Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University) ;
  • Oh, S.K. (Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University) ;
  • Shin, C.J. (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University)
  • 문신용 (서울대학교 의과대학 산부인과학교실) ;
  • 박중신 (서울대학교 의과대학 산부인과학교실) ;
  • 최진 (서울대학교 의과대학 산부인과학교실) ;
  • 고희정 (서울대학교 의과대학 인구의학 연구소) ;
  • 오선경 (서울대학교 의과대학 인구의학 연구소) ;
  • 신창재 (서울대학교 의과대학 산부인과학교실)
  • Published : 1997.08.30
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Abstract

A study has been carried out to elucidate the cytogenetic characteristics of Down's syndrome in Korea. This study includes 877 cases which were diagnosed as Down's syndrome by the chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 13 years from January, 1984 to December, 1996. 1. 83.6% of cases were diagnosed under 1 year of age and 10.9% were between 1 and 4 years old. The overall sex ratio was 3 to 2 (male to female). 2. The most frequent indication for cytogenetic analyses was suspicion of Down's syndrome. The next were growth retardation, congenital heart diseases, congenital anomalies. 3. 88.4% of cases had free trisomy 21. In 6.5%, there was translocation, mostly Robertsonian t(14;21) or t(21;21). 3.9% of cases were mosaics mostly with one normal cell line. 4. Karyotyping was also performed in 204 parents of patients. 6 parents (2.9%) were seen to be translocation carriers of Down's syndrome. We find the unique features of Down's syndrome in Korea that the incidences of free trisomy 21 is relatively lower and that translocation is higher than western countries.

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