title: Bilateral preaxial polydactyly in a WAGR syndrome patient.
abstract: We report on a 30-month-old baby girl with typical clinical features of WAGR syndrome. In addition, the patient showed bilateral preaxial polydactyly of the feet. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del(11)(p13p14.1), extending from 6.1 to 21.7 Mb in size. Although the simultaneous appearance of WAGR and polydactyly has been already described, to our knowledge this is the first case in which the characterization at the cytogenetic molecular level of a patient with these phenotypes is reported. These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity.
authors.affiliation: Department of Experimental Oncology, Istituto Nazionale Tumori, Milan, Italy.
authors.forename: Siranoush
authors.initials: S
authors.lastname: Manoukian
authors.forename: John A
authors.initials: JA
authors.lastname: Crolla
authors.forename: Palma M A
authors.initials: PM
authors.lastname: Mammoliti
authors.forename: Maria Adele
authors.initials: MA
authors.lastname: Testi
authors.forename: Rinaldo
authors.initials: R
authors.lastname: Zanini
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Carpanelli
authors.forename: Elena
authors.initials: E
authors.lastname: Piozzi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Sozzi
authors.forename: Giovanna
authors.initials: G
authors.lastname: De Vecchi
authors.forename: Monica
authors.initials: M
authors.lastname: Terenziani
authors.forename: Filippo
authors.initials: F
authors.lastname: Spreafico
authors.forename: Paola
authors.initials: P
authors.lastname: Collini
authors.forename: Paolo
authors.initials: P
authors.lastname: Radice
authors.forename: Daniela
authors.initials: D
authors.lastname: Perotti
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006214:Hallux; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D017689:Polydactyly / Q000473:pathology*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017624:WAGR Syndrome / Q000473:pathology*; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins; D004247:DNA