Journal of Diabetes Medication & Care

Down’s Syndrome Researches High Impact Factor Journals

 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, one case (0.84%) was found to have double Trisomy and 7 cases (5.9%) had Mosaicism. 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.   Down syndrome may be a genetic disease during which person have 47 chromosomes rather than the standard 46.Down syndrome occurs in extra copy of chromosome 21 it's called as trisomy 21.the extra chromosome causes the problems to body and brain. Symptoms of this disease are small ears, flatted nose, small mouth, poor muscular tonus, short height etc. Identification of mongolism in pregnant by conducting the screening tests and diagnostic tests. Currently there's no specific treatment for dis disease. Down’s syndrome is the most common syndrome, medical professional encounters in day to day practice. It is a genetic disease with a typical face profile and few classical intraoral features. Herein we report case and review on Down’s syndrome with countenance.

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