Down Syndrome Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome. The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from nondisjunction of the mother's egg cell.
The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes Down some syndrome characteristics. Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome. Individuals with Down syndrome often have distinct physical characteristics, unique health issues, and variability in cognitive development. Physical characteristics include:
Eyes that have an upward slant, oblique fissures, epicanthic skin folds on the inner corner, and white spots on the iris
Low muscle tone
Small stature and short neck
Flat nasal bridge
Single, deep creases across the center of the palm
Protruding tongue
Large space between large and second toe
A single flexion furrow of the fifth finger.
Individuals with Down syndrome usually have cognitive development profiles indicative of mild to