Assistant Professor, Department of Anatomy, S.M.C.S.I. Medical College, Kerala University of Health Science, Karakonam - 695 504, Trivandrum, Kerala, India. Email: thulasidasr@yahoo.co.in
In the present investigation, cytogenetic study was carried out on 86 children having learning disability from various parts of Kerala.
Children for the present research study were selected based on their intelligence quotient. Blood samples were collected from all the children and routine karyotyping was performed.
Of the 86 samples, four showed chromosomal abnormalities such as deletion, translocation and inversion and two other samples showed various features of Fragile X syndrome when screened for Fragile X karyotypig using modified karyotyping procedures. In 26 samples, 4–45% fragile site was reported.
The present investigation concludes that cytogenetic investigation appeared to be more reliable for identifying Fragile X syndrome.
Learning disability, Karyotyping, Fragile X syndrome, FMR-1 gene
