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      Chromosomal investigations in patients with mental retardation and/or congenital malformations

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          Abstract

          We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

          Translated abstract

          Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

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          Most cited references32

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          Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

          E B Hook (1976)
          Tables specifically tailored to the exclusion of cytogenetic mosaicism at three confidence levels are presented. The consequences of the assumption of independence in application of the binomial theorem to this question are discussed. The tables are most applicable to the number of cells evaluated from cultures in which all mitoses are arrested in the first in vitro division. For long-term cultures the tables are conservatively applicable to the number of separate colonies evaluated. If n cells have been evaluated from phytohemagglutinin stimulated peripheral blood after 72 hr in cultures, the tables are applicable to between n/2 and n cells.
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            Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use

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              Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                gmb
                Genetics and Molecular Biology
                Genet. Mol. Biol.
                Sociedade Brasileira de Genética (Ribeirão Preto )
                1678-4685
                December 2000
                : 23
                : 4
                : 703-707
                Affiliations
                [1 ] Universidade do Estado do Rio de Janeiro Brazil
                Article
                S1415-47572000000400002
                10.1590/S1415-47572000000400002
                8de1fe68-d69e-49ac-85ff-2ede17a40ecd

                http://creativecommons.org/licenses/by/4.0/

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                Product

                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=1415-4757&lng=en
                Categories
                BIOCHEMISTRY & MOLECULAR BIOLOGY
                GENETICS & HEREDITY

                Molecular biology,Genetics
                Molecular biology, Genetics

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