Gary has a chromosomal deletion and Heather has a chromosomal insertion. Which best describes which disease each may have?

DiGeorge syndrome can result from a deletion on chromosome 22, so it fits Gary’s chromosomal deletion. Fragile X syndrome is caused by an expansion of repeated DNA sequences in the FMR1 gene, which can be described as an insertion of extra repeats, so it fits Heather’s chromosomal insertion.

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