Volume : II, Issue : II, February - 2013

Clinical Profile of Down Syndrome Cases

Dr. Apte M. V, Dr. Suresh D. Gangane

Abstract :

Introduction: Down syndrome is the commonest chromosomal anomaly seen in all the live births and the most frequent genetic cause of mild to moderate mental retardation, associated with medical problems. Aims & Objectives: The present study was undertaken to analyze various chromosomal anomalies associated with Down syndrome, to correlate them clinically and to counsel the parents / relatives as necessary. Method: 100 clinically suspected Down syndrome cases were selected for the study. A detailed history with pedigree chart and the examination findings were recorded for every patient. Chromosomal analysis (Karyotyping) was also done. Result & Conclusion: The results were statistically analyzed. The most striking clinical feature observed in the present study was mental retardation; others being delayed milestones, mongoloid slanting eyes, etc. Chromosomal abnormality was confirmed in 92 cases. A positive outcome of the present study was that, in maximum patients the diagnosis of Down syndrome had been made very early in their life. Counseling of the parents helped them in the better management of these subjects.

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Article: Download PDF   DOI : 10.36106/ijsr  

Cite This Article:

Dr. Apte M. V,Dr. Suresh D. Gangane Clinical Profile of Down Syndrome Cases International Journal of Scientific Research, Vol.II, Issue.II February 2013

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