Contiguous Gene Syndrome. A Case Report

• Autor(a) principal: Adrião, Mariana
• Data de Publicação: 2020
• Outros Autores: Guardiano, Micaela, Gonçalves, Daniel
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.25754/pjp.2020.17692
• topic: Case reports

High-resolution genetic tests, such as microarray-based comparative genomic hybridization, are helping clinicians in the diagnostic “odyssey” of neurodevelopmental disorders. Nevertheless, it has been leading to the description of a new kind of syndromes, globally classified as contiguous gene syndromes. Its definition is based on chromosomal abnormalities, either deletions or duplications involving contiguous genes, and there is a wide range in severity and complexity of the associated phenotype. We describe the case of a 15-year-old boy with ichthyosis, obesity and intellectual disability. A genetic was suspected for several years, and a contiguous gene syndrome was utterly established, explaining his phenotype. By reporting this case, the authors call attention to the fact that cases of unexplained intellectual disabilities should be periodically reevaluated, and new diagnostic tools, such as microarray-based comparative genomic hybridization may ultimately establish the diagnosis.