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Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome.

ResumoNo ensino superior, as metodologias ativas são alternativas a aulas expositivas e visam formar profissionais proativos e capacitados a trabalhar em equipe. O objetivo deste trabalho foi avaliar a motivação e a percepção de aprendizagem de 68 alunos matriculados em 2015 no primeiro ano do curso de Nutrição da Universidade Positivo, submetidos a aulas expositivas e à metodologia ativa adaptada de aprendizagem baseada em problemas e em projetos (ABPP) por meio de questionários e comparação estatística. Em nossos resultados não foram observadas diferenças significativas quanto à motivação e percepção de aprendizagem, no ponto de vista dos alunos. Entretanto, os alunos que responderam ao questionário após a metodologia ativa perceberam maior convergência entre as disciplinas envolvidas (p<0.05). Concluímos que o uso de metodologias ativas e da interdisciplinariedade provocou no aluno uma melhor percepção na relação que existe entre disciplinas de formação básica e profissionalizantes. Termos de indexação: Metodologias ativas. Interdisciplinaridade. Ensino superior. AbstractIn higher education, active methodologies are alternatives to lectures to train proactive and capable professionals to work in teams. The aim of this study was to evaluate the motivation and the perception of learning of 68 students enrolled in 2015 in the first year of Nutrition course of the Positivo University, submitted to lectures and the adapted active methodology of problem-based learning and projects through Questionnaires and statistical comparison. In our results there were no significant differences in the motivation and perception of learning from the point of view of the students. However, the students who answered the questionnaire after the active methodology perceived greater convergence among the subjects involved (p <0.05). We conclude that the use of active methodologies and of interdisciplinarity provoked in the student a better perception in the relation that exists between disciplines of basic and professional training.