7q11.23 duplication syndrome
7q11.23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences. It is caused by a small amount of additional (duplicated) Genetic materiall from chromosome 7. It is also known as Williams-Beuren region duplication syndrome, WBS duplication syndrome, Chromosome 7q11.23 duplication syndrome, Somerville-Van Der AA syndrome, Dup(7)(q11.23), Trisomy 7q11.23, and 7q11.23 microduplication syndrome.
Signs and symptoms
Symptoms may include: motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation).
7q11.23 duplication syndrome is caused by a duplication of genetic material on the long (q) arm of chromosome 7.
Some cases of 7q11.23 duplication syndrome are inherited in an autosomal dominant manner; however, the majority of affected individuals have a new (de novo) duplication.
While there is no cure for 7q11.23 duplication, treatment options will depend on the type and severity of symptoms present and may involve several specialists. Intensive speech/language therapy was found to be important for maximizing long-term outcomes.