Deletion of short arm of chromosome 4

This code describes a specific chromosomal abnormality characterized by the absence of genetic material from the short arm of chromosome 4. This deletion is associated with Wolf-Hirschhorn syndrome, a rare genetic disorder presenting with distinctive facial features, intellectual disability, growth deficiency, and seizures.

Use this code when documentation confirms a diagnosis of Wolf-Hirschhorn syndrome or a 4p deletion identified through genetic testing, such as karyotyping or chromosomal microarray. This code is appropriate for patients exhibiting the characteristic clinical features and confirmed genetic findings.

• Ensure genetic testing results explicitly state "deletion of short arm of chromosome 4" or "4p deletion."
• Do not use this code for other chromosomal deletions or translocations affecting chromosome 4; verify the specific arm and location.
• Sequence this code as a primary diagnosis when it is the underlying cause of the patient's condition.