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Bibliotecas e serviços de documentação de saúde em Portugal: situação actual
Miguéis, Ana Maria Eva; Donato, Helena Margarida; Brito, FilomenaEm Portugal existe um número significativo de bibliotecas e serviços de informação directa ou indirectamente ligados às instituições de saúde.Em 1988, o então Grupo de Trabalho de Informação em saúde (GTIS) – embrião da actual APDIS – elaborou o Repertório das Bibliotecas e Serviços de Informação em Saúde [1] com o objectivo de definir o perfil das bibliotecas e serviços de documentação da saúde em Portugal.Ten...
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...
9q34.3 microdeletion by MLPA in a fetus with cardiac defects
Marques, Bárbara; Ferreira, Cristina; Brito, Filomena; Alves, Cristina; Carvalho, Lucilia; Furtado, José; Ventura, Catarina; Silva, MarisaAbstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x
Gestações gemelares: anomalias cromossómicas em diagnóstico pré-natal (2001-2012)
Brito, Filomena; Simão, Laurentino; Alves, Ana; Silva, Marisa; Furtado, José; Ventura, Catarina; Ambrósio, Paula; Geraldes, Céu; Melo, AntonietaIntrodução: As gestações gemelares (GG) têm aumentado significativamente nos últimos anos, sendo este aumento atribuído a um efeito combinado de tratamentos de fertilidade e aumento da idade materna. As grávidas com GG têm um risco acrescido de anomalias cromossómicas fetais, comparativamente às de gestações simples. Objetivo: Avaliação dos resultados obtidos em estudos de Diagnóstico Pré-Natal (DPN) de Anomal...
Prenatal Investigation of a Familial Partial Monosomy 10q
Silva, Marisa; Marques, Bárbara; Brito, Filomena; Ferreira, Cristina; Furtado, José; Ventura, Catarina; Nunes, Luis; Kay, Teresa; Caetano, PaulaObjective: To present the clinical, cytogenetic and molecular findings of a prenatal study of a familial partial monosomy 10q. Distal 10q deletions are rare and the majority are terminal deletions involving bands 10q25 and 10q26. Patients typically present with facial dysmorphism, postnatal growth retardation, developmental and mental retardation, genitourinary anomalies and digital anomalies. Methods: Conventi...
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...
Prenatal diagnosis of terminal 11q deletion
Simão, Laurentino; Brito, Filomena; Silva, Marisa; Marques, Bárbara; Furtado, José; Ventura, Catarina; Caetano, Paula; Dias, Ivone; Correia, HildebertoThe majority of 11q deletion cases described may be included in the “distal 11q deletion syndrome”, or Jacobsen syndrome. This is a rare but clinically recognizable condition with an incidence of 1/ 100,000 births. The most common clinical features are psychomotor delay, characteristic facial dysmorphism and malformations of the heart, kidney, genitalia, central nervous system and skeleton. Patients usually hav...
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