Bilateral preaxial polydactyly in a WAGR syndrome patient

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)426-429
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number4
Publication statusPublished - May 1 2005


  • Del(11)(p13-14.1)
  • Polydactyly
  • WAGR syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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