UNIQUE PRESENTATION OF AN 8p DELETION IN A DISCORDANT TWIN WITH ATRIOVENTRICULAR CANAL DEFECT AND PROLONGED HYPOGLYCEMIA
Kumar P*, Elshershari H, Parashette KR, Ize-Ludlow D, Harris C
*Corresponding Author: Praveen Kumar, M.D., Department of Pediatrics, University of Illinois at Chicago, 840 S. Wood Street, Chicago, IL 60612, USA; Tel.: +312-850-0375; Fax: +312-413-0243; E-mail: praveenk@ uic.edu
page: 47

REFERENCES

1. Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol 2004; 19(3): 205-210.

2. 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.

3. 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.

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

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

6. 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.

7. 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.

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

9. 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.

10. 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.


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





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