What does 12q mean?
Summary. Listen. Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material 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 duplication and which genes are involved.
Is Angelman syndrome hereditary?
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy . These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
What is 12q deletion?
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.
What happens to a person with chromosome 12q duplication?
Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. [1] [2] Most cases are not inherited, but people can pass the duplication on to their children.
Where does chromosome 12q deletion syndrome take place?
(Definition/Background Information) Chromosome 12q Deletion Syndrome 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.
Where is the missing chromosome on chromosome 12?
Chromosome 12q Deletion Syndrome 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.