English

Abstract

BACK GROUND: To study the chromosomal pattern of the Down's syndrome patients of the eastern Indian population coming to the MKCG Medical College, Berhampur, Odisha, India. Methodology: 0.8ml of peripheral blood was collected from all the patients and cultured in RPMI 1640 medium for 72h in CO2 incubator. Then cells were harvested with colchicines and after the hypotonic treatment the slides were prepared and stained with giemsa. After that it was observed with high power microscope and reported. RESULT: From the 50 patients, 39 patients were Primary trisomy 21 (47, XX or XY+21), 6 was Mosaic Trisomy 21 (46/47, XX or XY+21), 3 was Down's syndrome Primary amenorrohoea (47, XX, +21) and there was 2 translocation 46, XY, t (14:21) 46, XY, t (21:21). The paternal age at 26-30 years were found more whereas the maternal age at 21-25 years was found more and males were more affected as compare to the females. CONCLUSION: It is tempting to speculate that, the difference in clinical features, growth retardation, abnormal dermatoglyphic patterns etc, are related to the genetic constitution of the Down's syndrome