Trisomy 21, translocation

This code represents Down syndrome that specifically results from a translocation of genetic material, rather than the more common nondisjunction event. In this form, an extra copy of chromosome 21 is attached to another chromosome, typically chromosome 14, 21, or 22. Individuals present with the characteristic features of Down syndrome.

Use this code when documentation explicitly states a diagnosis of Down syndrome due to a translocation. This diagnosis is typically confirmed through karyotyping or other genetic testing. It is crucial to differentiate this specific genetic cause from other forms of Trisomy 21.

• Ensure documentation specifies "translocation" as the cause of Trisomy 21; do not use for nondisjunction or mosaicism.
• This code is more specific than codes for unspecified Trisomy 21 and should be used when the genetic mechanism is known.
• Always review genetic test results or geneticist reports for definitive confirmation of translocation Down syndrome.