Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

• Autor(a) principal: Lengyel, Anna
• Data de Publicação: 2020
• Outros Autores: Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/7650
• topic: Abnormalities, Multiple; Autism Spectrum Disorder; Brain; Child; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 16; DNA Copy Number Variations; Developmental Disabilities; Female; Gene Ontology; Genetic Association Studies; Humans; Hungary; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microarray Analysis; Obesity; Phenotype; Segmental Duplications, Genomic; Sequence Deletion; Tomography Scanners, X-Ray Computed; Doenças Genéticas

The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73 patients were analyzed by chromosomal microarray, and results were confirmed by fluorescence in situ hybridization or polymerase chain reaction. All patients underwent detailed clinical evaluation, with special emphasis on behavioral symptoms. 16p rearrangements were identified in 10 individuals. We found six pathogenic deletions and duplications of the recurrent regions within 16p11.2: one patient had a deletion of the distal 16p11.2 region associated with obesity, while four individuals had duplications, and one patient a deletion of the proximal 16p11.2 region. The other four patients carried 16p variations as second-site genomic alterations, acting as possible modifying genetic factors. We present the phenotypic and genotypic results of our patients and discuss our findings in relation to the available literature.