15q11.2 deletion

What are 15q11 deletion syndromes?

15q11 deletion syndromes are caused by the loss of function of a gene on chromosome 15. Normally, people inherit one copy of the gene from each parent, and both copies become active in many areas in the body. Missing the maternal copy of the gene leads to a condition called Angelman syndrome; if the paternal gene is missing the condition is called Prader-Willi syndrome. Features of 15q11 deletion syndromes include delayed development, intellectual disability, and in some cases hyperphagia (insatiable appetite) and infertility.

How common is a 15q11 deletion syndrome?

A 15q11 deletion syndrome affects an estimated 1 in 12,000 to 1 in 20,000 people. The condition is not related to race, nationality, religion or socioeconomic status.

How are 15q11 deletion syndromes treated?

There is no cure for the syndromes caused by a 15q11 deletion. There are therapies and medical interventions that are available to help address the associated symptoms. Therapies may include speech therapy, behavior modification, communication therapy, occupational therapy, physical therapy, special education, weight management and social skills training.