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Balkan Journal of Medical Genetics

The Journal of Macedonian Academy of Sciences and Arts

IMPACT FACTOR 2015: 0.404

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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

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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

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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

  • Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol 2004; 19(3): 205-210. [PubMed] [CrossRef]

  • Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet 1992; 42(4): 424-427. [PubMed]

  • Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424(6947): 443-447.

  • Lubs ML, Lubs HA. Chromosome identification-techniques and applications in biology and medicine. Nobel Symposia 1973; 8: 241-250.

  • Hutchinson R, Wilson M, Voullaire L. Distal 8p deletion (8p23.1→8pter): a common deletion? J Med Genet 1992; 29(6): 407-411.

  • Kuo CT, Morrisey EE, Anandappa R, Sigrist K, Lu MM, Parmacek MS, Soudais, C, Leiden JM. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev 1997; 11(8): 1048-1060. [PubMed] [CrossRef]

  • Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP, Lindley KJ, Seino S, Aguilar-Bryan L, Gonzalez G, Milla PJ. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Eng J Med 1997; 336(10): 703-706.

  • Dekelbab BH, Sperling MA. Recent advances in hyperinsulinemic hypoglycemia of infancy. Acta Pediatrica 2006; 95(10): 1157-1164.

  • Hoe FM, Thornton PS, Wanner LA, Steinkrauss L, Simmons RA, Stanley CA. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr 2006; 148(2): 207-212.

  • Busfield F, Duffy DL, Kesting JB, Walker SM, Lovelock PK, Good D, Tate H, Watego D, Marczak M, Hayman N, Shaw JT. A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians. Am J Hum Genet 2002; 70(2): 349-357. [CrossRef] [PubMed]

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