ISSN 0976-4550  
DOI: 10.21276/Ijabpt  
 
 
 
Peer Reviewed Online International Journal of Applied Biology and Pharmaceutical Technology www.ijabpt.com
 

CYTOGENETIC ANALYSIS OF DOWN SYNDROME: A REPORT FROM INDIA.  Page No 43 to 48, Volume-8, Issue-1, Jan-Mar-2017   DOI: 10.21276/ijabpt.2017.8.1.6

Ketan K Vaghasia, Nidhi D Shah, Vidhi M Bhatt, Parth S Shah, Mandava V Rao and Sandip C Shah.

ABSTRACT: Down Syndrome (DS) is the commonest autosomal disorder, trisomy 21 in children. It is identified by mental retardation and facial symptoms clinically. This study was conducted on 830 referral cases in our Institute of Ahmedabad Gujarat (India) and compared the epidemiology of this disease with World data available. Karyotype of blood culture of each case was analyzed using Carl Zeiss MetaSystems following WHO manual. A numbers of 82 cases were detected positive of Down Syndrome (9.9%). Amongst, regular/classical free T21 (92.6%) was higher followed translocation (6.0%) and mosaics (1.2%). Maternal age and age independent factors are important for causing this disorder. Males are more affected due to male predominance. Further world survey of frequencies of it indicated regular free 21 is the highest amongst the other types. We hence concluded that identification of this genetic disorder helps an occurrence of mode ofits type. Further, its identity assists genetic screening to suffered families for proper management.

Key words: Referral cases, Cytogenetic analysis, down syndrome, world survey, factors.

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