Chromosome 22q11.2 duplication syndrome

Finding a primary care provider willing to familiarize himself/herself with the medical literature available on 22q11.2 duplication syndrome should benefit patients with 22q11.2 duplication syndrome, and consultation with a medical geneticist and/or genetic counselor is recommended. The National Society of Genetic Counselors website includes a "Find a Genetic Counselor" searchable directory to locate genetic counselors throughout the United States and Canada.

Most primary care providers, medical geneticists and other specialists (ophthalmologists, cardiologists, neurologists, etc.) who may be involved in the care of individuals with 22q11.2 duplication syndrome may not have experience treating others with 22q11.2 duplication syndrome. However, the medical and developmental issues that may be associated with 22q11.2 duplication syndrome are not unique or specific to 22q11.2 duplication syndrome. Individuals with many different underlying conditions may be affected by issues similar to those that may be experienced by individuals with 22q11.2 duplication syndrome. Since treatment for 22q11.2 duplication syndrome is based on the symptoms that a given individual is experiencing, working with your primary care provider to find a specialist in the specific condition(s) relevant to each patient will lead to the best care. Many children with 22q11.2 duplication may benefit from occupational, physical and/or speech therapy. Depending on an individual's specific symptoms, specialists such as ophthalmologists, audiologists, cardiologists, neurologists or others may be beneficial (to address vision, hearing, cardiac (heart) and neurological problems such as seizures, respectively). Regular and high quality dental care is recommended.