/partial deletion of the long arm of chromosome 2

partial deletion of the long arm of chromosome 2

Rare Disease

MONDO:0016901

Also Known As

partial deletion of chromosome 2qpartial deletion of the long arm of chromosome type 2partial monosomy of chromosome 2qpartial monosomy of the long arm of chromosome 22q deletion2q monosomychromosome 2q deletiondeletion 2qmonosomy 2qpartial monosomy 2q

Definition

Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.