Chromosome 12q deletion

Disease Overview

Chromosome 12q 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 12. 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 12q 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.[9765]

Synonyms

• Deletion 12q
• Monosomy 12q
• 12q deletion
• 12q monosomy
• Partial monosomy 12q