Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

Fuad Fares, Miriam David, Aaron Lerner, Roni Diukman, Israela Lerer, Dvorah Abeliovich, Joseph Rivlin

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1785-1788
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number16
DOIs
StatePublished - 15 Aug 2006
Externally publishedYes

Keywords

  • Cystic fibrosis
  • Genomic imprinting
  • Overgrowth
  • Paternal UPD7

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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