Every healthy human being’s genome comprises of 23 pairs of chromosomes in each body cell. Of these 46 chromosomes, 23 each are inherited from the two parents. Each of these chromosomes is a carrier of genes that are vital to normal body functioning. Any additions or deletions in these 46 chromosomes present in each body cell could lead to genetic abnormalities.

The chromosomal abnormality resulting from the presence of three chromosomes 21 instead of two is referred to as Down syndrome. It is believed that during conception, a fetus with Down syndrome inherits two 21st chromosomes from the mother and one from the father. This additional chromosome 21 leads to retarded physical and mental growth.

Those suffering from the disorder have very peculiar physical features such as eyes that slant upwards, narrow slits of the eyes, epicanthic skin folds on the inner corner, white spots on the iris, poor muscle tone, small stature, short neck, flat nasal bridge, single and deep crease at the center of the palms, protruding tongue, large space between the big toe and the second toe and a single flexion furrow of the 5th finger. Apart from this atypical physical appearance, such individuals also display varying degrees of mental retardation, delayed gross and fine motor skills, and poor communication skills and ability of expression.

Even after years of research, the precise cause of the abnormality remains unknown. The only influencing factor discovered so far seems to be the age of the expectant mother. The more the maternal age, the higher are the chances of occurrence of Down syndrome. Thanks to the advancement in medical science, several screenings and tests are available that can help in identifying the abnormality in the prenatal stage itself. Also, the rising awareness with respect to the disorder has led to innovation of therapies that aim towards making individuals with Down syndrome independent and self reliant.

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