Chromosome 11p13 deletion syndrome

WAGR syndrome


Type of disease: Cancer | Pediatric onset | Rare Condition or Disease

WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome.  A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.  The syndrome is due to a microdeletion in the 11p13 region of chromosome 11.  In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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