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- W336030907 abstract "The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito5urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and predisposition to nephroblas5 toma are related to hemizygosity for the Wilms tumor suppressor gene WT1. We report an 85year5old boy with WAGR syndrome and additional unusual clinical features. He had developmental delay, growth deficiency, severe ocular involvement, operated Wilms tumor and postaxial polydac5 tyly. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del (11) (p11.2p13). Although the simultaneous appear5 ance of WAGR and preaxial polydactyly has been already described, to our knowledge this is the first case in which the postaxial polydactyly is reported. The unusual anomalies described in this report may be another features of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity." @default.
- W336030907 created "2016-06-24" @default.
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- W336030907 date "2009-08-01" @default.
- W336030907 modified "2023-09-23" @default.
- W336030907 title "A WAGR Syndrome Case with Postaxial Polydactyly" @default.
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