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July 15, 2026Pediatric ReportsOpen Access

Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the BUB1 Gene

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Authors

VPVerónica Judith Picos-CárdenasRARoberto Iván Avendaño-GálvezAHAlberto K. De la Herrán-Arita

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Overview

Descriptive genomic observation reveals epilepsy and intellectual disability in a boy with 2q13 microdeletion, suggesting further research is needed.

Key Points

  • This study aims to describe a case of a boy with epilepsy and intellectual disability linked to a specific chromosomal microdeletion.
  • Conducted a descriptive genomic observation of a teenage boy
  • Identified a 48.55 kb 2q13 microdeletion affecting the BUB1 gene
  • Noted a concurrent 11q21 microdeletion with clinical features analysis
  • The patient exhibited epilepsy and intellectual disability along with mild facial dysmorphism.
  • Compound minor copy number variations complicate the clinical interpretation of his condition.

Cite This Study

Picos-Cárdenas et al. (2026) studied this question.

synapsesocial.com/papers/6a57229088b21df87547f929https://doi.org/10.3390/pediatric18040096
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations2025
  2. 2Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder2024
  3. 3A family case of a rare Xq28 duplication2025 · 2 citations
  4. 4Genotype-Phenotype Insights from a Rare Case of 2q37.2 Microdeletion Syndrome in an Indian Boy2026
  5. 51q25.3–q32.1 deletion causing multisystem developmental delay: a case report and literature review2026