Down Syndrome (Trisomy 21):
A chromosomal abnormality. Trisomy 21 is the most common, affecting 95% of individuals. Down Syndrome affects 13.7 individuals per 10,000 births. It is the single most common cause of human birth defects.
Characteristics of Down Syndrome
- Physical characteristics such as a three-palm print pattern, brushfield spots (colored specks in the iris of the eye), ear length, neck skinfold, short stature (to name a few).
- Increased risk of congenital heart defects
- Higher chance of Alzheimer’s disease because of tangles in the brain
- Sensory impairments (vision and hearing particularly)
- Higher chance of developing diabetes
- Dental problems
- Gross motor progress is typically slow
- Late to develop speech
How Genes affect individuals
- Trisomy 21/Down Syndrome occurs when there is an extra copy of chromosome 21. So they carry 47 chromosomes, rather than the normal 46.
- Maternal age is linked to the prevalence (as the mother is older, the risk increases).
- Mother can undergo prenatal diagnostic testing through blood screening tests and fetal ultrasounds
For additional resources, visit:
- http://www.trianglemom2mom.com/special-needs-support#downsyndrome
- http://triangledownsyndrome.org/cmsmadesimple/index.php
- http://www.ndss.org
- http://www.arcwake.org/kidconnect.html
- http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/
- http://www.ds-health.com/trisomy.htm
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