<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></abstract>

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.

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

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

Balkan Journal of Medical Genetics

We report on a del(8)(p22) in a severe intrauterine growth retarded newborn with balanced atrioventricular canal defect and prolonged hyperinsulinemic...

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

Publicado en línea: 25 ago 2010

Páginas: 45 - 48

DOI: https://doi.org/10.2478/v10034-010-0018-4

Palabras clave
Del(8)(p22), Atrioventricular canal defect, Congenital hyperinsulinism, Hypoglycemia

This content is open access.

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

Publicado en línea: 25 ago 2010

Páginas: 45 - 48

DOI: https://doi.org/10.2478/v10034-010-0018-4

Palabras claveDel(8)(p22), Atrioventricular canal defect, Congenital hyperinsulinism, Hypoglycemia

This content is open access.

Palabras clave
Del(8)(p22), Atrioventricular canal defect, Congenital hyperinsulinism, Hypoglycemia