Down Syndrome is a condition that is genetic in nature. Approximately 1 in every 800 infants will be born with Down Syndrome. Those born with the syndrome have 47 chromosomes instead of the normal 46. Any individual in any race, culture, religion or economic status can be born with Down Syndrome.

The diagnosis is usually made shortly after birth and is done upon a physical examination. The physician conducting the examination will look for the common physical traits of Down Syndrome. These physical traits include: having low muscle tone, having a single crease across the palm of the hand on either one or both hands, facial features that are flattened and an upward slant to the eyes. A chromosomal study (karyotype) will be ordered to confirm the diagnosis. This study groups the chromosomes by size, number and shape. The study is conducted by using blood or tissue samples.