Navegando por Palavras-chave "deletion"

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    Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome
    (Elsevier B.V., 2002-06-01) Dalla Torre, Cristiane Arruda [UNIFESP]; Lee, MLD; Yoshimoto, Maysa; Lopes, Luis Fernando; Melo, L. N.; Toledo, Silvia Regina Caminada de [UNIFESP]; Andrade, Joyce Anderson Dufles [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
    We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. the cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. the different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. the association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS. (C) 2002 Elsevier B.V. All rights reserved.
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    Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
    (Wiley-Blackwell, 2012-05-01) Brusius-Facchin, Ana Carolina; Moura de Souza, Carolina Fischinger; Schwartz, Ida Vanessa D.; Riegel, Mariluce; Melaragno, Maria Isabel [UNIFESP]; Correia, Patricia; Moraes, Lucia Marques; Llerena, Juan; Giugliani, Roberto; Leistner-Segal, Sandra; Hosp Clin; Univ Fed Rio Grande do Sul; Universidade Federal de São Paulo (UNIFESP); Fiocruz MS
    Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after exon by exon PCR. DNA was used as a template for PCR synthesis of IDS, FRAXA, FRAXE, and DXS1113 specific amplicons. the DNA analysis for all three patients demonstrated a complete deletion of IDS, FRAXA, and FRAXE contiguous genes. We further performed SNP-array to delineate the deletion breakpoints and to characterize the deletion extension in the different patients. the results indicated a similar to 9.4?Mb deletion in Patient 1, a similar to 3.9?Mb deletion of the Xq27.3Xq28 and a similar to 3.1?Mb duplication of the X q28 region in Patient 2 and a similar to 41.8?Kb deletion in Patient 3. SNP-array was shown to be important to map for deletion breakpoints. A comprehensive molecular analysis in patients with Hunter syndrome, especially in the ones presenting the severe form, is important to the understanding of the genetic determinants of the phenotype and for the genetic counseling to be provided to the families. (c) 2012 Wiley Periodicals, Inc.