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16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder; developmental delay; intellectual disability; and speech and language delays. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on signs and symptoms present in each individual.
Source: GARD Last updated on 05-01-20
The signs and symptoms present in individuals with a 16p11.2 duplication vary greatly. While some individuals may have developmental delays, others may have few, if any medical or developmental concerns. The most common features include:
Some people with a 16p11.2 duplication are born with birth defects such as heart defects, cleft lip and palate, and differences in urinary tract development. There does not appear to be a consistent pattern of birth defects found in individuals with a 16p11.2 duplication.
Last updated on 05-01-20
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