This is an image of all 46 chromosomes of the cured WHIM syndrome patient shows that one copy of chromosome 2 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.
http://ift.tt/16H5Oq3
http://ift.tt/16H5Oq3
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