Down Syndrome

The human body had two copies of 22 chromosomes and a copy of the sex chromosomes totaling 46 chromosomes. Down syndrome is a chromosomal abnormality when an individual has a full or partial copy of the 21st chromosome. Trisomy 21, Mosaic and Translocated are the three categories of Down syndrome. Trisomy 21 is the most common type, resulting in the individual having an additional copy of the 21st chromosome. Mosaic is when only a few cells have an additional copy of the 21st chromosome. Translocated occurs when part of the 21st chromosome breaks off and attaches to another chromosome.

People born with Down syndrome have intellectual disabilities, low muscle tone and cognitive delays. There are no levels to how bad or less affected a person has Down syndrome. There are several tests that can be conducted to verify where a child will or will not be born with Down syndrome. An amniocentesis and a blood test called Noninvasive Prenatal Tests (NIPT) are ways to accurately test for Down syndrome.

Common physical characterizes of Down syndrome are:
• 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