Down syndrome is the result of an extra copy of genetic material on all or part of the 21st chromosome. Health and developmental challenges occur in varying degrees to individuals living with Down syndrome.
Trisomy 21: The cause of 95% of cases—occurs when there are three copies of the 21st chromosome, instead of two. This genetic condition, which occurs at conception, is more prevalent among older mothers.
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. This translocation causes some Down syndrome characteristics.
Most medical conditions related to Down syndrome are well-understood, and treatments are available. For people with Down syndrome, the treatment of Alzheimer’s and of the root cause of intellectual disability are two of the biggest remaining frontiers to achieving improved independence. There is good news — we believe that researchers are on the cusp of major scientific advances and translational treatments for both of these conditions.
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