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KMID : 0382619850050010261
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Hanyang Journal of Medicine
1985 Volume.5 No. 1 p.261 ~ p.272
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A Cytogenetic Study in Patients Referred for Suspected Chromosomal Abnormalities
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Abstract
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Presented in this paper is the data from a chromosome examination of 268 patients referred for suspected chromosomal abnormalities. Karyotypes were obtained using short-term blood culture and conventional staining and G-banding methods. Of these, 180 patients had normal chromosome complements; 84 (31.3%) a major chromosome abnormality; and 4 (1.5%) a minor chromosome anomaly, giving a total of 88 (32.8%) patients with a major chromosome abnormality or distincitive chromosome variant. Among all patients with chromosome abnormalities, 70 (79.5%) had aberrations of chromosome number (aneuploids), the others had aberrations of chromosome struc-ture; and 9.1% of these (8 out of 88) were mosaic of a normal and an aberrant cell lines. Five had a chromosome rearrangement; 3 of them were reciprocal and 2 Robertsonian translocations. Two patients with pericentric inversions and 4 with isochromosomes were observed. There were 4 patients with partial deletion of .a chromosome. One patient with a ring chromosome was observed and another patient had partial deletion of a chromosome along with a characteristic marker. In addition, one patient was found to be carrying a distinctive chromosome variant (15p+).
Thus the results of the present study indicate the importance of cytogenetic evalua-tion in clinically abnormal patients.
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