Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
2009
Case Report of a Patient with Chromosome 11 Deletion
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Almind Gitte J, Brøndum-Nielsen Karen, Bangsgaard Regitze, Baekgaard Peter, Grønskov Karen
Primary Institution: Kennedy Center, Glostrup, Denmark
Conclusion
The study presents a patient with a deletion on chromosome 11 that explains several observed abnormalities, including genital issues due to the loss of the WT1 gene.
Supporting Evidence
- The deletion on chromosome 11 was characterized using FISH and MLPA analyses.
- The deletion encompasses 44 genes, including the WT1 gene.
- The patient exhibited symptoms consistent with both WAGR and Potocki-Shaffer syndromes.
Takeaway
A boy had some health problems because of a missing piece of his DNA, which affected his body and mind.
Methodology
Cytogenetic analysis was performed using FISH and MLPA to characterize the deletion on chromosome 11.
Limitations
The study is based on a single case, limiting the generalizability of the findings.
Participant Demographics
The patient is a 15-year-old boy, first child of unrelated parents.
Digital Object Identifier (DOI)
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