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