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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.
Source: GARD Last updated on 05-01-20
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 12q deletions.
Last updated on 04-27-20
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