Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

Am J Med Genet A. 2006 Aug 15;140(16):1785-8. doi: 10.1002/ajmg.a.31380.

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.

Publication types

  • Case Reports

MeSH terms

  • Body Weight
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Fathers
  • Genetic Markers
  • Genomic Imprinting*
  • Growth Disorders / genetics*
  • Humans
  • Male
  • Polymorphism, Genetic
  • Uniparental Disomy*

Substances

  • Genetic Markers