Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowthHow to cite this article: Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J. 2006. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. Am J Med Genet Part A 140A:1785–1788.

Autor:	Fares, Fuad, David, Miriam, Lerner, Aaron, Diukman, Roni, Lerer, Israela, Abeliovich, Dvorah, Rivlin, Joseph
Zdroj:	American Journal of Medical Genetics. Part A; August 2006, Vol. 140 Issue: 16 p1785-1788, 4p
Abstrakt:	We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease‐causing gene in paternal UPD7. © 2006 Wiley‐Liss, Inc.
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