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

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AudienciaPúblico en generales_ES
CoberturaMéxicoes_ES
Fecha de ingreso2026-09-15T00:30:19Z
Fecha de publicación2026-01-01
ResumenBackground: The chromosomal microdeletion syndrome 2q13 is characterized by craniofacial dysmorphism, developmental delay, intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, cardiac abnormalities, and seizures. Case Presentation: In this study, we present a descriptive genomic observation of a teenage boy presenting with epilepsy, intellectual disability, and mild facial dysmorphism, found to carry a 48.55 kb 2q13 microdeletion restricted to the BUB1 locus alongside a concurrent 11q21 microdeletion. While his clinical features overlap with the 2q13 microdeletion spectrum, the exact pathogenic contribution of each variant remains a subject of hypothesis due to the lack of parental inheritance data. Conclusions: Further research is necessary to ascertain the impact of the concurrence of small deletions on these disorders. This case underscores the clinical complexity introduced by compound minor copy number variations and emphasizes the value of molecular cytogenetics in evaluating idiopathic neurodevelopmental disorders.es_ES
Doihttps://doi.org/10.3390/pediatric18040096es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/2237
Idiomaeses_ES
EditorialMDPI AGes_ES
RelaciónPediatric Reportses_ES
URL relacionadohttps://doi.org/10.3390/pediatric18040096es_ES
DerechosAcceso abierto (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_abf2es_ES
FuentePediatric Reports
TítuloEpilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the BUB1 Genees_ES
TipoArtículoes_ES
ArbitradoHa sido Arbitradoes_ES
AutorPicos-Cárdenas, Verónica Judith
AutorAvendaño-Gálvez, Roberto Iván
AutorHerrán-Arita, Alberto Kousuke De la
AutorCalderón-Zamora, Loranda
AutorCervín-Serrano, Salvador
AutorContreras-Gutiérrez, José Alfredo
AutorCedano-Prieto, Dora María
AutorMeza-Espinoza, Juan Pablo
AutorPicos-Cárdenas, Verónica Judithes_ES
AutorAvendaño-Gálvez, Roberto Ivánes_ES
AutorHerrán-Arita, Alberto Kousuke De laes_ES
AutorCalderón-Zamora, Lorandaes_ES
AutorCervín-Serrano, Salvadores_ES
AutorContreras-Gutiérrez, José Alfredoes_ES
AutorCedano-Prieto, Dora Maríaes_ES
AutorMeza-Espinoza, Juan Pabloes_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número4es_ES
Rango de páginas96es_ES
URL relacionadahttps://doi.org/10.3390/pediatric18040096
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen18es_ES

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