Retinoblastoma and Hirschsprung disease with a 13q14 to 22 deletion
Anthony G Zaborowski1, Carl-Heinz Kruse, Shelagh Kavonic
1Department of Ophthalmology, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban.
Insights
A rare chromosome 13 deletion syndrome, causing Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism, is reported in a South African child of Indian-Asian descent. This is the third documented case globally.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism are recognized congenital conditions.
- Interstitial deletions of chromosome 13 are associated with rare genetic syndromes.
- Previous cases of this specific deletion syndrome have been reported in Caucasian children.
Observation:
- The study presents a rare case of a South African child of Indian-Asian descent.
- The child exhibits Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism.
- This constellation of symptoms is linked to an interstitial deletion on chromosome 13.
Findings:
- This report documents the third known case of this specific interstitial chromosome 13 deletion syndrome.
- The case expands the known ethnic and geographic distribution of this rare genetic disorder.
- The findings highlight the phenotypic variability and potential for this syndrome to occur in diverse populations.
Implications:
- This case underscores the importance of considering rare chromosomal abnormalities in pediatric diagnoses.
- Further research into the genetic mechanisms and phenotypic spectrum of chromosome 13 deletions is warranted.
- Increased awareness may improve early diagnosis and management of affected individuals across different ethnicities.
Abstract:
Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism with an interstitial deletion of chromosome 13 is a rare gene deletion syndrome that has twice before been described in white children. The authors present the third report of such a case in a South African child of Indian-Asian descent.
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