title: Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth.
abstract: Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver-Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre- and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France.
authors.forename: Cedric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Ulrika
authors.initials: U
authors.lastname: de Pontbriand
authors.forename: Valerie
authors.initials: V
authors.lastname: David
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Audrezet
authors.forename: Claude
authors.initials: C
authors.lastname: Ferec
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006128:Growth; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D024182:Uniparental Disomy