ArticleCureus2025
A De Novo 13q21.33-q31.1 Interstitial Deletion in a Child With Megalocornea and Neurodevelopmental Delay: A Clinico-Genomic Correlation.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Interstitial deletions of the long arm of chromosome 13 (13q) represent a rare and clinically diverse group of chromosomal abnormalities. We report the case of an eight-year-old Moroccan male with a de novo 9.8 Mb deletion at 13q21.33-q31.1, diagnosed via whole-exome sequencing (WES). The patient exhibited global developmental delay, absent structured language, macrocephaly, distinctive facial dysmorphism, ocular anomalies including bilateral megalocornea and nystagmus, musculoskeletal features such as scoliosis and hyperlaxity, and bilateral cryptorchidism. This case is the first to document megalocornea in association with a 13q deletion and supports the involvement of
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