A Novel de Novo Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability

A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was no...

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Detalhes bibliográficos
Publicado no:Balkan J Med Genet
Main Authors: Zachaki, S, Kouvidi, E, Mitrakos, A, Lazaros, L, Pantou, A, Mavrou, A, Tzetis, M, Manola, KN
Formato: Artigo
Idioma:Inglês
Publicado em: Sciendo 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454239/
https://ncbi.nlm.nih.gov/pubmed/30984528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2018-0016
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