Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge
โ Scribed by Aravindhan Veerapandiyan; Omar A. Abdul-Rahman; Margaret P. Adam; Michael J. Lyons; Melanie Manning; Karlene Coleman; Lisa Kobrynski; Deeksha Taneja; Kelly Schoch; Holly H. Zimmerman; Vandana Shashi
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 719 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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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
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