What is Down syndrome?
Down syndrome is a genetic condition that occurs when there is an extra chromosome present on the 21st pair of an individual's chromosomes. It occurs randomly, and scientists agree it is not caused by anything a parent did or did not do.
It doesn’t mean down, or depressed! The name “Down syndrome” was coined in 1862 after researcher John Langdon Down correlated various characteristics of Down syndrome and proposed that it was diagnosis distinct from other conditions. But it wasn’t until 1959 that French physician Jérôme Lejeune published his research proving that Down syndrome was caused by the existence of the three chromosomes on the 21st pair. Down syndrome is also called Trisomy 21: “Tri” meaning three, and “somy” meaning chromosomes.
People born with Down syndrome may have all or only some of their cells that contain the extra chromosome. Each individual with Down syndrome is UNIQUE, with strengths and weaknesses that present differently from another person with Down syndrome. When a diagnosis of Down syndrome is suspected, your healthcare professional may order genetic testing to help determine diagnosis.
If genetic testing confirms a diagnosis, or while you are waiting for results, you may have many questions!
If you have received a confirmed or suspected diagnosis of Down syndrome / Trisomy 21, please reach out to us for support on your most burning questions. We will help you find the answers you need.
