title: Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
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.
authors.affiliation: Department of Molecular Genetics, Technion-Israel Institute of Technology, Haifa, Israel. fares@clalit.org.il
authors.forename: Fuad
authors.initials: F
authors.lastname: Fares
authors.forename: Miriam
authors.initials: M
authors.lastname: David
authors.forename: Aaron
authors.initials: A
authors.lastname: Lerner
authors.forename: Roni
authors.initials: R
authors.lastname: Diukman
authors.forename: Israela
authors.initials: I
authors.lastname: Lerer
authors.forename: Dvorah
authors.initials: D
authors.lastname: Abeliovich
authors.forename: Joseph
authors.initials: J
authors.lastname: Rivlin
mesh_terms: D001835:Body Weight; D002675:Child, Preschool; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005220:Fathers; D005819:Genetic Markers; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D024182:Uniparental Disomy
chemical_list: D005819:Genetic Markers