Diagnosis of de novo 17p11.2 microduplication - potocki-lupski syndrome identified by chromosomal microarray analysis: a case report / Diagnóstico de novo 17p11.2 microduplicação - potocki-lupski síndrome identificada por análise de microarray chromosomal: um relatório de caso

• Autor(a) principal: Pinto, Irene Plaza
• Data de Publicação: 2021
• Outros Autores: Minasi, Lysa Bernardes, de Melo, Aldaires Vieira, e Cunha, Damiana Mírian da Cruz, Ribeiro, Cristiano Luiz, da Silva, Cláudio Carlos, da Cruz, Aparecido Divino
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Veras
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BRJD/article/view/35435
• topic: CMA; Potocki-Lupski Syndrome; 17p11.2; Microduplication.

Potocki-Lupski Syndrome is a continuous gene syndrome caused by the microduplication of 3.7 Mb segment at 17p11.2 characterized by developmental delay, intellectual disability, the developmental deficit for psychomotor and expressive speech, autistic features, obsessive-compulsive behaviors, and attention deficit. Using CMA, we detected the first de novo 3.7 Mb microduplication at 17p11.2 in a boy with an intellectual disability from Central Brazil.