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Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome

โœ Scribed by Johnson, Mark C.; Strauss, Arnold W.; Dowton, S. Bruce; Spray, Thomas L.; Huddleston, Charles B.; Wood, Mary K.; Slaugh, Rachel A.; Watson, Michael S.


Book ID
122010026
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
459 KB
Volume
76
Category
Article
ISSN
0002-9149

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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