What are 15q11.2 deletion syndromes?

15q11.2 deletion syndromes are caused by the loss of genetic material on chromosome 15. People typically inherit one copy of chromosome 15 from each parent. Missing the maternal copy leads to a condition called Angelman syndrome. If the paternal copy is missing, the condition is called Prader-Willi syndrome. Features of 15q11.2 deletion syndromes include delayed development, intellectual disability, and in some cases, hyperphagia (insatiable appetite) and infertility. The symptoms of these conditions vary significantly and depend on whether the individual has Angelman or Prader-Willi syndrome.

How common are 15q11.2 deletion syndromes?

The incidence of 15q11.2 deletion syndromes in the population is 1 in 12,000 to 1 in 20,000 births.

How are 15q11.2 deletion syndromes treated?

There is no cure for the syndromes caused by a 15q11.2 deletion. Treatments are directed at managing the specific symptoms an individual has. Therapies may include speech therapy, behavior modification, communication therapy, occupational therapy, physical therapy, special education, weight management, and social skills training.

What is the prognosis for a person with a 15q11.2 deletion syndrome?

The prognosis for individuals with this deletion depends on the severity of their symptoms. Some individuals may not survive the first few years of life, while others may live well into adulthood. Early intervention and treatment can improve outcomes.

Other names for
15q11.2 deletion

  • Angelman syndrome
  • Prader-Willi syndrome


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