Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia

We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing...

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