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A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

โœ Scribed by James R. Clarke; Matthias H. Schmidt; Marian B. Macken; Charlotte Morley; Elizabeth A. Cummings


Publisher
Springer-Verlag
Year
2006
Tongue
English
Weight
149 KB
Volume
37
Category
Article
ISSN
0301-0449

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This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in th

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We describe a patient with type I diabetes, clinical ยฎndings 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. H