Balanced sex/autosomal rearrangement in abnormal individual

This code describes a chromosomal abnormality where there is an exchange of genetic material between a sex chromosome (X or Y) and an autosome (any non-sex chromosome), resulting in an abnormal phenotype in the individual. Despite the rearrangement, the individual typically has a balanced amount of genetic material, meaning no net gain or loss, but the altered gene order leads to clinical manifestations.

Assign this code when documentation confirms a balanced translocation or rearrangement involving both a sex chromosome and an autosome in a patient presenting with developmental delays, intellectual disability, congenital anomalies, or reproductive issues. This diagnosis is typically established through karyotyping or other cytogenetic studies.

• Do not use this code for unbalanced translocations; those would be coded elsewhere based on the specific gain or loss.
• Always review the cytogenetic report carefully to confirm the balanced nature and the involvement of both sex and autosomal chromosomes.
• Sequence this code as a primary diagnosis when it is the reason for the encounter or the underlying cause of the patient's condition.