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 repr...

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Bibliographic Details
Published in:Balkan journal of medical genetics 2010-01, Vol.13 (1), p.45-48
Main Authors: Kumar, P, Elshershari, H, Parashette, K, Ize-Ludlow, D, Harris, C
Format: Article
Language:English
Subjects:
Atrioventricular canal defect
Congenital hyperinsulinism
Del(p22)
Hypoglycemia
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Summary: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.
ISSN:1311-0160
2199-5761
DOI:10.2478/v10034-010-0018-4