15q11.2 microdeletion

Disease Overview

15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely.[8546] The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder.[8546][8545] Other features may include birth defects and seizures.[8545] However, some people have no apparent physical, learning, or behavior problems.[8546] A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.

Synonyms

• Chromosome 15q11.2 microdeletion
• Chromosome 15q11.2 deletion
• Del(15)(q11.2)
• 15q11.2 microdeletion syndrome
• Monosomy 15q11.2
• 15q11.2 BP1-BP2 microdeletion syndrome