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A complex chromosomal rearrangement in a child with developmental delay, fracti...
Simão, Laurentino; Alves, Cristina; Brito, Filomena; Marques, Bárbara; Ferreira, Cristina; Gaspar, Isabel; Dieudonne, V.; Cabral, P.; Meneses, I.Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred...
A retrospective study of Down syndrome in prenatal diagnosis. Did chorionic vil...
Simão, Laurentino; Silva, Marisa; Brito, Filomena; Alves, Cristina; Marques, Bárbara; Ferreira, Cristina; Ambrósio, Paula; Silva, Maria do CéuIntroduction Down syndrome (DS) is the most common single genetic cause of human moderate mental retardation, with an estimated prevalence of 9.2 cases per 10,000 live births. We aimed at analyzing changes in prenatal diagnosis (PND) over time, namely the referral reasons for chromosome analyses and the introduction of chorionic villus sampling (CVS), and its influence on the results obtained in DS cases. Meth...
A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 an...
Alves, Cristina; Marques, Bárbara; Brito, Filomena; Silva, Marisa; Rodrigues, Rosário; Duarte, Guida; Sousa, Ana Berta; Bicho, AnabelaComplex chromosomal rearrangements (CCRs) are rare structural abnormalities that involve three or more breakpoints located on two or more chromosomes and are often associated with developmental delay, mental retardation and congenital anomalies. Here, we report the case of a rare de novo CCR in a girl who was 9 months old when first reported to us. At 15 months old, her clinical features included marked hypoton...
Perfil lipídico em estudantes do ensino superior: caracterização numa população...
Assis, Conceição; Duarte, Guida; Silva, Isabel; Tostão, Israel; Abreu, Renato; Caria, ElisaO perfil lipídico é condicionado por diversos fatores, entre os quais os estilos de vida, a prática de exercício físico e os hábitos alimentares. Com o presente estudo pretende‑se avaliar o perfil lipídico numa população de jovens e estudar a sua associação com o índice de massa corporal, com os estilos de vida e os hábitos alimentares. Com um estudo exploratório descritivo, transversal, foi determinado o perfi...
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