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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts

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Open Access

Unique Presentation of an 8p Deletion in a Discordant Twin with Atrioventricular Canal Defect and Prolonged Hypoglycemia

P Kumar1 / H Elshershari1 / K Parashette1 / D Ize-Ludlow1 / C Harris1

Department of Pediatrics, University of Illinois at Chicago, Chicago, IL, USA1

This content is open access.

Citation Information: Balkan Journal of Medical Genetics. Volume 13, Issue 1, Pages 45–48, ISSN (Print) 1311-0160, DOI: 10.2478/v10034-010-0018-4, August 2010

Publication History

Published Online:
2010-08-25

Unique Presentation of an 8p Deletion in a Discordant Twin with Atrioventricular Canal Defect and Prolonged Hypoglycemia

We report on a del(8)(p22) in a severe intrauterine growth retarded newborn with balanced atrioventricular canal defect and prolonged hyperinsulinemic hypoglycemia of infancy. Atrioventricular septal defects are associated with terminal deletions of chromosome 8p. Hyperinsulinism during infancy represents a group of clinically, genetically and morphologically heterogeneous disorders and is also associated with mutations in several genes. However, such 8p deletions are not associated with hyperinsulinemic hypoglycemia of infancy.

Keywords: Del(8)(p22); Atrioventricular canal defect; Congenital hyperinsulinism; Hypoglycemia

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