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KMID : 0377619760300050597
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Korean Jungang Medical Journal
1976 Volume.30 No. 5 p.597 ~ p.601
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Cytogenetic Studies on the Down´s Syndrome in Korea
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Abstract
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The chromosomal studies on the patients who had been initially diagnosed as mental retardation, growth retardation, suspicious Down´s syndrome or other genetic anomalies, were performed in the Genetics Laboratory, Yonsei University
College of Medicine from January 1, 1974 to March 31, 1976. As a result of that, we present the 15 Down´s syndrome karyotpes in this paper.
Out of them, 13 cases have possessed the typical Down´s syndrome karyptype, i.e., primary trisomy for chromosome 21 (47, XX or XY, -21) and 2 cases have had mosaic patterns (46, XY/47, XY, +21). Not any kinds of translocation of the long arm of chromosome 21 onto either a D chromosome or another G chromosome
have been observed.
In 2 cases; maternal karyotypes were analyzed but they are found out to
be normal chromosomal patterns. One Down´s syndrome patient with congenital lukaemia has only trisomy for chromosome 21 but not any other chromosomal abnormality.
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