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[WAGR syndrome: a case report]

M Moreno García1, J Sánchez del Pozo, F J Fernández Martínez

  • 1Hospital 12 de Octubre, Servicio de Genética, Madrid.

Anales Espanoles De Pediatria
|December 22, 1998
PubMed
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WAGR syndrome, a rare genetic disorder, is caused by a deletion on chromosome 11p13. This case highlights the characteristic features of Wilms' tumor, aniridia, genitourinary abnormalities, and developmental delays.

Area of Science:

  • Genetics
  • Human Biology

Background:

  • WAGR syndrome is a rare genetic disorder characterized by a specific deletion on the short arm of chromosome 11 (11p13).
  • It is associated with a constellation of clinical features including Wilms' tumor, aniridia, genitourinary abnormalities, and intellectual disability.

Observation:

  • This report details a new case of WAGR syndrome in a patient presenting with bilateral aniridia, Wilms' tumor, and cryptorchidism.
  • Cytogenetic analysis confirmed a deletion in the 11p12-p13 bands.

Findings:

  • The patient's karyotype was identified as 46, XY, del (11)(p12-p13).
  • The deletion at the p13 band of chromosome 11 was confirmed as the underlying cause of WAGR syndrome in this individual.

Implications:

Related Experiment Videos

  • This case contributes to the limited literature on WAGR syndrome, reinforcing the diagnostic criteria and genetic basis.
  • Understanding the specific chromosomal deletion aids in genetic counseling and potential therapeutic strategies for affected individuals.