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Abstract #3701 Published in IGR 4-2
Aniridia as part of a WAGr syndrome in a girl whose brother presented hypospadias
Lorda Sanchez I; Sanz R; Diaz Guillen MA; Fernandez Toral J; Heine Suner D; Rodriguez De Alba M; Gonzalez Gonzalez C; Trujillo MJ; Ramos C; Rodriguez De Cordoba SGenetic Counselling 2002; 13: 171-177
Aniridia as part of a WAGR syndrome in a girl whose brother presented with hypospadias: aniridia can arise as part of the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation), due to deletion of chromosomal region 11p13. The authors report on a girl with a complete WAGR syndrome, whose brother presented with hypospadias. Cytogenetic FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) was observed in her brother or parents. This excludes a higher risk than that of the general population for developing Wilms tumor in the brother, and supports the finding that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. The authors conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus, are important for identifying a high tumor risk in infant patients with antidia, including those without other WAGR anomalies.
Dr. I. Lorda-Sanchez, Servicio de Genetica, Fundacion Jimenez-Diaz, Av. Reyes Catolicos 2, 28040 Madrid, Spain. llorda@fjd.es
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
