16p11.2 deletion syndrome

Disease Overview

16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children.[3768]

Synonyms

• Chromosome 16p11.2 deletion syndrome
• Del(16)(p11.2)
• Monosomy 16p11.2
• Microdeletion 16p11.2