Throughout the early stages of human development, the vast majority of fetal chromosome abnormalities result in miscarriage. However, there are a small, but significant proportion of chromosome abnormalities that persist and if undetected, can manifest ass chromosome disease syndrome after birth. these chromosome abnormalities include DownSyndrome(trisomy 21), Edward Syndrome (trisomy 18) and Patau Syndrome(trisomy 13) as well as a range of sex chromosome abnormalities (SCAs) such as Turner Syndrome(45,XO), Klinefelter Syndrome(47,XXY),Triple X Syndrome(47,XXX) and JacobSyndrome (47,XYY). In addition to these 7 chromosome diseases, the fetus may also lose a small part of a chromosome and result in microdeletion syndrome. Although rare, the 7 most frequent microdeletion syndrome include 22q11.2(DiGeorge), 1p36, 2q33.1, 5p(Cri-Du-Chat),8q23-24(Langer-Giedion), and 15q11-13(Angleman/Prada-Willi).
The Centre have state of the art instruments, techniques and expertise for the advanced field of Medical Genetics, seldom ignored because of the lack of proper facilities in Kerala. We intend to provide our genetic services to all those needy patients who have to travel long distances to avail such facilities in the past.