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KMID : 0384119930130040679
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Korean Journal of Clinical Pathology
1993 Volume.13 No. 4 p.679 ~ p.688
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Cytogenetic Analysis of 70 Cases of Down Syndrome
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Abstract
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To investigate the cytogenetic karyotypes of Down syndrome, results of 760 cases of cytogenetic study from patients with suspected genetic disorders were analyzed. Cytogenetic study was performed using peripheral blood and GTG banding technique.
Chromosomal aberrations were detected in 175 cases(23.0%) out of 760 cases with suspected genetic disorders, among which autosomal disorders were 116 cases(15.3%) and sex chromosomal disorders were 59 cases(7.8%). Down syndrome was detected in 70
cases,
which comprised 40.0% of the cases with chromosomal aberration and 60.3% of autosomal disorders. Out of 112 cases with clinically suspected Down syndrome, there were 70 cases(62.5%) with down syndrome, 39 cases(34.8%) with normal karyotype, and
four
cases(3.7%) with other genetic disorders such as 45,XO (Turner syndrome), 46,XX;5/47, XX+13;10 (Patau syndrome), 46,XX,dup(1) (p12) and 46,XY,t(9;18)(q13;q21.3). Among 70 cases of Down syndrome, there were 63 cases(90.0%) of classic trisomy 12,
three
cases(4.3%) of translocation(21p12; 21q11.2) and one case(1.4%) of mosaicism. There was one case of Down syndrome with acute myeloid leukemia (FAB-M2) with additional chromosomal aberration myeloproliferative disorders, two of which had normal
karyotypes and two had additional chromosomal aberration of Klinefelter syndrome or hypodiploidy.
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