What does 16p11 2 deletion syndrome do?

What does 16p11 2 deletion syndrome do?

People with 16p11. 2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language.

What happens if you have microdeletion syndrome?

3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems.

How common are chromosomal duplications?

Duplications are even less common, showing a prevalence of 0.7 per 10,000 births and representing ≍ 2% of all the chromosome abnormalities identified (Wellesley et al., 2012).

What causes chromosome deletion syndrome?

3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb).

What are the symptoms of 16p11 deletion syndrome?

People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language.

What is deletion syndrome?

(Definition/Background Information) 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

What is 16p11 2 duplication syndrome?

16p11.2 Duplication Syndrome. 16p11.2 Duplication Syndrome 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.

What is chromosome 16p11 2?

16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated.