Chromosome analysis of 894 patients

Metaphase chromosome analysis from cultured blood lymphocytes was performed in 894 consecutive patients from the year 1981 to early 1989. G-bands by trypsin using Giemsa (GTG) was routinely employed during the last five years supplemented with other banding techniques if required. High resolution chromosome banding was performed in cases suspected of structural chromosome abnormality. Successful studies were obtained in 862 (96.4%). Out of the successful cases, 232 (26.9%) had informative results, and 193 (22.4%) had chromosome abnormalities. Down's syndrome was found in 110 cases. Edwards' and Patau's syndromes were found in 4 and 7 cases respectively. A case of trisomy 14 mosaic was found. There were 2 cases of trisomy 22 syndrome, one case with 46,XX/47,XX,+mar(22) and another case with 46,XX/47,XX,+r(22) karyotype. There were 39 cases of sex chromosome abnormalities, 27 of which had Turner's syndrome. Kline-felter syndrome was found in 8 patients. Triple X syndrome and true hermaphrodite (46,XX/46,XY) was each found in one case. Autosomal deletions were found in 19 patients. Autosomal duplications were found in 4 patients, and autosomal translocations were found in 10 patients. Some of these autosomal structural abnormal cases have been included in the chromosomal syndromes mentioned above.