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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
Summary
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:
- 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.