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Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect
S R Rao1, U H Athale, P R Kadam
1Department of Medical Oncology, Tata Memorial Hospital, Parel, Bombay, India.
Insights
This case study describes a rare instance of bilateral Wilms tumor (WT) in a young child, accompanied by several congenital anomalies. The unusual combination highlights the complex genetic factors potentially involved in developmental disorders.
Area of Science:
- Genetics
- Pediatric Oncology
- Developmental Biology
Background:
- Wilms tumor (WT) is a pediatric cancer affecting the kidneys.
- Aniridia-Wilms tumor association is a known genetic disorder.
- Multiple congenital anomalies can occur in affected individuals.
Observation:
- A two-year-old female presented with bilateral Wilms tumor.
- The patient exhibited multiple congenital anomalies including aniridia, cataracts, nystagmus, microcephaly, intellectual disability, and a ventricular septal defect.
- Karyotype analysis revealed a deletion on chromosome 11p13-14.1.
Findings:
- The karyotype 46,XX,del(11)(p13-14.1) was identified.
- The co-occurrence of a ventricular septal defect with the typical features of the aniridia-Wilms tumor association is noted as unusual.
- This case underscores the phenotypic variability associated with 11p deletions.
Implications:
- Further research is needed to understand the genetic mechanisms linking 11p deletions to diverse congenital anomalies.
- This case contributes to the understanding of rare genetic syndromes and their clinical manifestations.
- Early diagnosis and comprehensive management are crucial for patients with complex congenital conditions and Wilms tumor.
Abstract:
A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. Association of ventricular septal defect with the classical features of 'Aniridia-Wilms' tumor association' is an unusual feature in this case.