A Cytogenetic Study in Patients Referred for Suspected Chromosomal Abnormalities

Oh,  SK; Lee,  HH; Moon,  SY; Chang,  YS

Original Article

Korean Journal of Fertility and Sterility 1985;12(2):39-57.

¹Dept. of Biology, College of Liberal arts and Science, Kun Kuk University
²Department of Obstetrics and Gynecology, College of Medicine, Seoul National University

염색체 이상 환자의 세포 유전학적 연구

오선경¹, 이형환¹, 문신용², 장윤석²

¹건국대학교 문리과대학 생물학과
²서울대학교 의과대학 산부인과

Abstract

Presented in this paper the data from a chromosome study of 397 patients referred for suspected chromosmal abnormalities. Karyotypes were obtained using short-term blood culture and direct method. Of these 238 patients had normal chromosome complements; 159 (40.1%) patients had chromosome abnormality. Among all patients with chromosome abnormalities, 82.4% (131/159) had aberrations of chromosome number, the others 17.60/0 (28/159\ had aberrations of chromosome structure. Ten had a chromosome rearrangement; Five of them were reciprocal and five Robertsonian translocations. Four patients with pericentric inversions and one with paracentric inversions and four with isochromosomes were observed. There were four patients with marker chromosome, two patients had a chromosome insertion; and three others. (additional abnormal chromosomes.) Thus the results of the present study indicate the importance of cytogenetic evaluation in clinically abnormal patients.