{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T06:08:26Z","timestamp":1784095706591,"version":"3.55.0"},"reference-count":20,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T00:00:00Z","timestamp":1783814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Background: 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.<\/jats:p>","DOI":"10.3390\/pediatric18040096","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T02:34:44Z","timestamp":1783996484000},"page":"96","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the BUB1 Gene"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4320-9619","authenticated-orcid":false,"given":"Ver\u00f3nica Judith","family":"Picos-C\u00e1rdenas","sequence":"first","affiliation":[{"name":"Facultad de Medicina, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80019, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto Iv\u00e1n","family":"Avenda\u00f1o-G\u00e1lvez","sequence":"additional","affiliation":[{"name":"Centro de Rehabilitaci\u00f3n y Educaci\u00f3n Especial (CREE), Sistema DIF Sinaloa, Culiac\u00e1n 80020, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2307-0648","authenticated-orcid":false,"given":"Alberto Kousuke","family":"De la Herr\u00e1n-Arita","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80019, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-2283","authenticated-orcid":false,"given":"Loranda","family":"Calder\u00f3n-Zamora","sequence":"additional","affiliation":[{"name":"Facultad de Biolog\u00eda, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80040, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8074-0099","authenticated-orcid":false,"given":"Salvador","family":"Cerv\u00edn-Serrano","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n en Docencia en Ciencias de la Salud, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80030, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Alfredo","family":"Contreras-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80019, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4204-2175","authenticated-orcid":false,"given":"Dora Mar\u00eda","family":"Cedano-Prieto","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias Qu\u00edmico-Biol\u00f3gicas, Universidad Aut\u00f3noma de Sinaloa, Culiac\u00e1n 80010, Sinaloa, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Pablo","family":"Meza-Espinoza","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Matamoros, Universidad Aut\u00f3noma de Tamaulipas, Sendero Nacional km 3, Col. 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