Duplications with other complex rearrangements

This code represents a chromosomal abnormality characterized by the presence of extra genetic material (duplication) alongside other complex structural rearrangements within the same chromosome or across multiple chromosomes. These rearrangements often involve inversions, translocations, or deletions in addition to the duplication, leading to a highly altered genomic structure. Such complex changes can result in a wide spectrum of developmental and health issues.

Use this code when genetic testing, such as karyotyping, chromosomal microarray (CMA), or next-generation sequencing (NGS), identifies a duplication co-occurring with other complex chromosomal rearrangements. Documentation should explicitly state the presence of both a duplication and other complex rearrangements, often detailing the specific chromosomal regions involved. This code is appropriate for congenital anomalies or developmental disorders linked to these intricate genomic alterations.

• Ensure documentation clearly distinguishes between simple duplications and those involving additional complex rearrangements.
• Do not use this code for isolated duplications; refer to codes within Q92.1-Q92.3 for those scenarios.
• Always sequence this code as the primary diagnosis when it is the underlying cause of the patient's condition.