Mosaic, 45, X/other cell line(s) w abnormal sex chromosome

This code describes a specific type of Turner syndrome where an individual has a mosaic karyotype. This means some cells have the typical 45, X monosomy, while other cells have an abnormal sex chromosome, such as a structurally altered X chromosome or a Y chromosome. This genetic anomaly leads to a spectrum of clinical features associated with Turner syndrome.

Use this code when genetic testing confirms a mosaic karyotype involving 45, X and another cell line with an abnormal sex chromosome. This diagnosis is often made during evaluation for short stature, primary amenorrhea, gonadal dysgenesis, or other characteristic features of Turner syndrome. Documentation must clearly state the specific mosaic karyotype.

• Differentiate from other mosaic Turner syndrome codes (e.g., 45, X/46, XX) which involve a normal second X chromosome.
• Ensure the genetic report explicitly identifies an "abnormal sex chromosome" in the second cell line, not just a normal XX or XY.
• Consider sequencing with codes for associated clinical manifestations (e.g., congenital heart defects, renal anomalies) as secondary diagnoses.