alexa Abstract | Identification of Chromosomal fragile sites in Down syndrome

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Abstract

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.

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

Keywords

Down syndrome (DS), Chromosomal Fragile Sites (CFS)

 
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