A newborn with congenital heart disease and thymic aplasia is diagnosed with 22q11 deletion. Which mechanism caused this abnormality?
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Correct answer: Microdeletion via non-allelic homologous recombination
22q11 deletions often occur due to non-allelic homologous recombination, causing microdeletions. This leads to DiGeorge syndrome features such as thymic aplasia. Uniparental disomy does not cause this syndrome.
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