From March, 1988 to October, 1993, we studied chromoscomal analysis from peripheral blood to investigate chromosomal abnormalities in 611 patients showing multiple congenital anomaly, growth or mental retardation, repeated pregnancy losses,
infertility,
amenorrhea, pubertal failure, ambiguous genitalia, fetal anormaly, malignant disease and other. 82 chromosomal abnormalities were recognized as follows.
1. The rate of chromosomal abnormality is 13.2%. Among them, autosomal abnormality is 67% and sex chromosomal abnormality is 33%.
2. 22 cases of 47, XY,+21, 21 cases of 47, XX,+21, 3 cases of 46, XX, t(14;21) (q11:q11), and 1 case of 46, XX, t(15;21 (q11;q11) were found in Down syndrome.
3. 13 cases of 45, X, 4 cases of 46X, I(Xq), 2 cases of 46X, I(Xq)/45, X, 1 case of 45, X/46, Xr(X), and 1 case of 45, X/47, XXX were found in Turner syndrome.
4. 6 cases of Kleinfelter syndrome were found.
5. 4 cases of reciprocal translocation, 3 cases of Robertsonian translocation and 2 cases of ring chromosomes were found.
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