Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

Abstract excerpt

We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot....

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• Share to Abnormalities, Multiple
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• Share to Chromosomes, Human, Pair 22