Current Pediatric Research

- Current Pediatric Research (2011) Volume 15, Issue 1

Identification of Chromosomal fragile sites in Down syndrome

Chromosomal aberrations play a role in growth and ageing in Down Syndrome (DS) and identification of these fragile sites depends on culture conditions. In the present study lym-phocyte cell culture was carried out using RPMI 1640 with folic acid and RPMI 1640 without folic acid, both with and without addition of 5-Azacytidine. Chromosomal fragile sites were seen in folate free RPMI 1640 media with 5-Azacytidine. Fragile sites were seen in 22 cases in the form of chromosome breaks/gaps,chromosome loss ,triradial/quadriradial configuration and ring/ dicentric chromosomes . Breakpoints were seen in A,B,C, and D group of Denver’s classification of chromosomes. Hence chromoso-mal fragile sites were seen best with RPMI 1640without folic and with 5-Azacytidine.

Author(s): Sangeetha A, Parkash Chand, Vishnu Bhat B, Ramachandra Rao K, Nandha Kumar S

Abstract Full Text PDF