1. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
- Author
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Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, and Rivlin J
- Subjects
- Body Weight, Child, Preschool, Chromosome Mapping, Cystic Fibrosis diagnosis, Fathers, Genetic Markers, Humans, Male, Polymorphism, Genetic, Chromosomes, Human, Pair 7, Cystic Fibrosis genetics, Genomic Imprinting, Growth Disorders genetics, Uniparental Disomy
- Abstract
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.
- Published
- 2006
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