1. Bilateral preaxial polydactyly in a WAGR syndrome patient.
- Author
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Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, and Perotti D
- Subjects
- Abnormalities, Multiple pathology, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 11 genetics, DNA genetics, Female, Hallux, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Microsatellite Repeats, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, WT1 Proteins genetics, Abnormalities, Multiple genetics, Polydactyly pathology, WAGR Syndrome pathology
- 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., (2005 Wiley-Liss, Inc.)
- Published
- 2005
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