Laboratory Investigation of Suspected Cases of Chromosomal Abnormalities at the Korle-Bu Teaching Hospital.

Abstract

Results of cytogenetic analysis carried out on 434 patients referred with clinical history suggestive of chromosomal abnormality showed a frequency of 27.4% (119/434) Of this number (119), 66.4% (79/119) had trisomy 21, made up of 71 regular Mongols [47,XX(Y), + 21] and 8 mosaics [46/47,XX(Y, +211. There was a male/female ratio of 3:2. Of the remaining 40, five were trisomy 13 and five trisomy 1& 26 of these had sex chromosome abnormality, out of which twenty were of the Turner's syndrome, three of intersex, two 0/ Klinefelter's syndrome, and one 47XYY. Among the 20 Turner syndrome patients fourteen were mosaic (46,XX/45,XO) and five homogeneous (45,XO) .. one patient had the 46,XY/45,XO pattern. Four structural chromosomal abnormalities were found. They consisted one each of 46,XX,D-,t(DqGq) +, 46,XXI46,XX,20q-(Philadelphia chromosome), 46,xx,q- and 46,XX/46,XX, types