16p112 DELETION syndrome

Summarized by Plex Health
Last Updated: 02 May 2022

16p11. 2 deletion syndrome is a problem brought on by a missing piece on a specific area of chromosome 16 designated as p11. 2. People with 16p11. 2 deletion syndrome usually have developing delay and intellectual impairment. Most cases of 16p11. 2 deletion syndrome are not inherited, although affected people can pass the condition on to their children. Developmental delays often tend to influence language and cognitive function more than motor function. Some people with the deletion have no identified abnormalities or problems. Affected people go to increased risk for excessive weight, and might be at increased risk for seizures and reasonably small heart problems. While people with 16p11. 2 deletion syndrome do not have a characteristic pattern of distinct physical features, several researches have reported numerous features in affected people. The inheritance of 16p11. 2 deletion syndrome is autosomal dominant since a deletion in only one copy of chromosome 16 in each cell is enough to cause the condition.

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