16p11.2 deletion syndrome

16p11.2 Deletion Syndrome

16p11.2 deletion syndrome (pronounced: sixteen p eleven point two deletion syndrome) is a genetic disorder caused by a deletion of a small piece of chromosome 16 in each cell. The deletion occurs at a location designated as p11.2.

Etymology

The name "16p11.2 deletion syndrome" is derived from the location of the genetic mutation. The "16" refers to chromosome 16, "p" stands for the short arm of the chromosome (from the French petit, meaning small), "11.2" is the position on the chromosome, and "deletion syndrome" indicates that a part of the chromosome is missing or deleted.

Symptoms

People with 16p11.2 deletion syndrome often have developmental delay and intellectual disability. They may also have autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and other behavioral problems. Physical abnormalities, such as microcephaly (small head size) or macrocephaly (large head size), may also be present.

Related Terms

• Chromosome
• Genetic disorder
• Developmental delay
• Intellectual disability
• Autism spectrum disorder
• Attention deficit hyperactivity disorder
• Behavioral problems
• Microcephaly
• Macrocephaly

See Also

• Genetic deletion
• Chromosomal abnormalities
• Genetic disorders

External links

• Medical encyclopedia article on 16p11.2 deletion syndrome
• Wikipedia's article - 16p11.2 deletion syndrome

This WikiMD article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski