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Bilateral preaxial polydactyly in a WAGR syndrome patient

Manoukian, Siranoush, Crolla, John A., Mammoliti, Palma M.A., Testi, Maria Adele, Zanini, Rinaldo, Carpanelli, Maria Luisa, Piozzi, Elena, Sozzi, Gabriella, De Vecchi, Giovanna, Terenziani, Monica, Spreafico, Filippo, Collini, Paola, Radice, Paolo and Perotti, Daniela (2005) Bilateral preaxial polydactyly in a WAGR syndrome patient American Journal of Medical Genetics Part A, 134A, (4), pp. 426-429. (doi:10.1002/ajmg.a.30647).

Record type: Article


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

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Published date: 1 May 2005
Keywords: polymerase chain reaction, fluorescence, report, phenotype, wt1 proteins, observation, preschool, syndrome, female, research support, restriction fragment length, child, pair 11, in situ hybridization, karyotyping, hallux, dna, humans, abnormalities, polymorphism, chromosome banding, chromosome deletion, polydactyly, proteins, non-us government, human, genetics, chromosomes, microsatellite repeats, pathology, wagr syndrome, multiple, protein


Local EPrints ID: 60023
ISSN: 1552-4825
PURE UUID: 483ec524-ea24-4108-a89b-02ce1fb68734

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Date deposited: 03 Sep 2008
Last modified: 17 Jul 2017 14:23

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Author: Siranoush Manoukian
Author: John A. Crolla
Author: Palma M.A. Mammoliti
Author: Maria Adele Testi
Author: Rinaldo Zanini
Author: Maria Luisa Carpanelli
Author: Elena Piozzi
Author: Gabriella Sozzi
Author: Giovanna De Vecchi
Author: Monica Terenziani
Author: Filippo Spreafico
Author: Paola Collini
Author: Paolo Radice
Author: Daniela Perotti

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