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