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Year : 2008  |  Volume : 12  |  Issue : 4  |  Page : 5-8

Down’s Syndrome : A Chromosome Study Of 118 Cases From Jammu & Kashmir, India



Correspondence Address:
Wahied Khawar Balwan


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Source of Support: None, Conflict of Interest: None


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Introduction : Down’s syndrome (DS), the commonest autosomal disorder, besides having mental retardation and development delay, have typical phenotype that make this syndrome different from other syndromes. Objectives: To compare our data on DS with other studies done in India and abroad. Material & Methods: Chromosome study was carried out in 118 cases of clinically diagnosed Down’s syndrome referred to Human Genetic Research cum Counselling center, Jammu. The study was carried out form the peripheral blood lymphocyte culture. Results: Charomosomal abnormalities could be detected in 59 cases (50.0%). In all these 59 cases trisomy 21 was detected, however 51 cases (43.22%) had Standard or Free Trisomy (47, XY+21 or 47,XX +21), one case (0.84%) was found to have double Trisomy (48, XXX+ 21) and 7 cases (5.9%) had Mosaicism (47,XY+21/46, XY and 47, XX+ 21/46, XX). Parameters like Parental age, Sex ratio (Male/Female), Consanguinity, Birth Order, Religion and Native place (rural/urban) were also studied to find out the association, if any, of these factors with the Down’s Syndrome birth. Conclusion: The present study though includes a small number referred cases, it clearly demonstrates the importance of chromosomal analysis for referred DS cases. Although DS can be clinically diagnosed, cytogenetic examination not only helps to confirm the chromosomal abnormality but is also indispensable for Genetic Counselling and prevention of further offspring with DS in affected families. The finding of this study will help in managing DS children and counseling the affected families.


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