A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia,...

The short form of the term "WAGR syndrome" denotes susceptibility to Wilms tumor, absence of irises, genital and urinary anomalies, and growth/development retardation. It is also called 11p deletion syndrome since varying amounts of the short arm of chromosome 11 are found deleted in these patients. The earliest presenting symptom can be undescended testes detected at birth or nystagmus, which can bring attention to the aniridia by a physician. Recognition of this disorder is important for surveilling Wilms tumor, an embryonal cancer of the kidney. A genetic diagnosis is possible by using a chromosomal microarray, fluorescent in situ hybridization, or multiplex ligation-dependent probe amplification (MLPA). The inheritance is autosomal dominant and, in most cases, the deletion is sporadic/denovo (not inherited from parents). We describe a male child with Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome due to a microdeletion on chromosome 11 {arr[GRCh38]11p14.3p12(22,560,576_38,466,045)x1}.