Karyotype 47, XYY

This code represents XYY syndrome, a sex chromosome aneuploidy characterized by the presence of an extra Y chromosome in males, resulting in a 47, XYY karyotype. Individuals typically present with normal male appearance but may exhibit increased height, learning difficulties, behavioral issues, and sometimes fertility problems.

Use this code when documentation confirms a diagnosis of XYY syndrome based on genetic testing, specifically a karyotype showing 47, XYY. It is appropriate for initial diagnosis and for ongoing management of individuals with this chromosomal abnormality.

• Ensure genetic testing results, such as a karyotype report, are clearly documented to support this diagnosis.
• Do not confuse this with other sex chromosome abnormalities like Klinefelter syndrome (XXY) or Turner syndrome (XO).
• Code any associated clinical manifestations or complications, such as developmental delays or infertility, in addition to this primary diagnosis.