What is Jacobsen Syndrome? Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most…
Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, high levels of calcium in the blood and urine, and a markedly outgoing personality. Williams Syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental…
What is down syndrome? Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities. Many disabilities are lifelong, and they can also shorten life expectancy. However,…
