Description:
Down syndrome, associated with the
most common chromosomal abnormality recorded, is a congenital disease that
exhibits varying degrees of mental retardation ranging from mild to moderate
and multiple other defects. It is also known as mongolism, mongoloid idiocy,
trisomy G syndrome, and trisomy 21. The disease results from the presence of
extra genetic material in an individual. This article discusses the history of
Down syndrome, testing, and diagnosis methods, and associated medical
disorders.
Learning Objectives:
- Outlining the history of Down syndrome
- Discuss the methods of prenatal testing for Down syndrome
- Discuss diagnosing methods for newborns
Author(s):
Rebecca Rowland
Debra H. Wisenor, BS, MT(ASCP)
George H. Roberts, EdD, MT(AMT)
Launched: 2003