/partial deletion of the long arm of chromosome 6

partial deletion of the long arm of chromosome 6

Rare Disease

MONDO:0016905

Also Known As

partial deletion of chromosome 6qpartial deletion of the long arm of chromosome type 6partial monosomy of chromosome 6qpartial monosomy of the long arm of chromosome 66q deletion6q monosomychromosome 6q deletiondeletion 6qmonosomy 6qpartial monosomy 6q

Definition

Chromosome 6q 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 6. 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 6q deletion include developmental delay, intellectual disability, 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.