2023-01-162023-01-162008SILVA, Amanda Quintairos e; MEGURO, Ayuri Mayra Jucá. Cromossomopatias em crianças matriculadas no Programa de Desenvolvimento Infantil Caminhar do Hospital Universitário Bettina Ferro de Souza. Orientadora: Isabel Cristina Neves de Souza. 2008. 58 f. Trabalho de Curso (Bacharelado em Medicina) - Faculdade de Medicina, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2008. Disponível em: https://bdm.ufpa.br:8443/jspui/handle/prefix/5032. Acesso em:.https://bdm.ufpa.br/handle/prefix/5032The genetic syndromes increase the chance of neuropsichomotor developmental disturbance in children. This retrospective study aims to evaluate the prevalence of chromosome disease and propose a clinic protocol diagnostic in a reference institution of neuropsichomotor developmental delayed children, in the city of Belém, Pará state, Brazil. Children until 13 years old with neuropsichomotor developmental delay admitted in Children Development Program “Caminhar” from Bettina Ferro de Souza Hospital – Pará Federal University (UFPA), in the period of January to December 2006, are the researched population. The cytogenetic diagnostic studies have been made by the Human and Medical Genetics Laboratory of the same University. The total number of children analyzed is 153, with median age of 5.31±3.56 years old. Twenty karyotypes results have been found in 25 children with nine positive results. The more prevalent alteration found is Down Syndrome (55.56% - 5 cases). We have also found other pathologies as 12q2+ Syndrome, Cri-Du-Chat Syndrome, 13q- Syndrome and a 20p duplication structural mutation. Language delay (30.43%), behavioral disturbance (21.43%) and motor delay (18.94%) are the more frequent functional disturbance observed.Acesso AbertoCromossomopatiasAtraso do desenvolvimentoCariótipoChromosome diseasesDevelopmental delayKaryotypeCNPQ::CIENCIAS DA SAUDE::MEDICINATrabalho de Curso - Graduação - Monografia