46 Chromosomes of the Cured WHIM Syndrome Patient (IMAGE)

NIH/National Institute of Allergy and Infectious Diseases

46 Chromosomes of the Cured WHIM Syndrome Patient

Caption

This is an image of all 46 chromosomes of the cured WHIM syndrome patient shows that one copy of chromosome 2 (red box) is significantly shorter than the other, a loss of genetic material caused by chromothripsis. As a result of this random event, the patient experienced a fortuitous deletion of a mutant copy of the gene responsible for WHIM syndrome--CXCR4--in the immune cells most affected by the mutation.

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NIAID

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