Create issue ticket

991 Possible Causes for q13

Show results in: 日本語

  • Tuberculosis

    Additionally, regions such as 8q12-q13 are associated with increased risk, although an exact mechanism or candidate gene has not yet been found.[]

  • Angelman Syndrome

    KEYWORDS: 15q11.2-q13 deletion; Angelman syndrome; fraternal twins; germ-line mosaicism; recurrence risk[] OBJECTIVE: To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13.[] Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13.[]

  • Prader-Willi Syndrome

    PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region.[] […] duplication of 15q11-q13 region that is present in one of the maternal homologs.[] […] describes the phenotype, from early childhood to adolescence, of a girl with Angelman syndrome (AS) born following a maternal transmission of a germline paternal 15q11.2-q13[]

  • Mantle Cell Lymphoma

    Cytogenetic analysis of mantle cell lymphoma (MCL), characterized by the presence of t(11;14)(q13;q32) translocation, is often difficult because of the low proliferating rate[] In all cases, we have found a fusion signal (ie, a t(11;14)(q13;q32) translocation) in 14% to 99% of cells (median, 87%).[] We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11.2) by conventional cytogenetic studies.[]

  • Clear Cell Sarcoma

    However, the translocation t(12; 22)(q13; q12) is specific to CCS.[] […] Abstract Clear cell sarcoma (CCS) of tendons and aponeuroses is an aggressive neoplasm that is characterized by a pathognomonic translocation, t(12;22)(q13[] Although morphologically similar to malignant melanoma, CCSST can be distinguished by the presence of a t(12; 22)(q13; q12) and/or associated EWSR1-ATF1 chimeric gene.[]

  • Familial Cylindromatosis

    We have carried out a genome search using two families with this disease, which has provided strong evidence for linkage of cylindromatosis to loci on chromosome 16q12-q13[] The gene of familial cylindromatosis was localised to chromosome 16q12-q13 and it was proposed that this gene is a tumor supressor gene.[] This disorder is inherited in an autosomal manner and is caused by mutation of the CYLD gene on chromosome 16q12-q13.[]

  • Brooke-Spiegler Syndrome

    Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13[] Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518 2T C, on the CYLD1 gene of chromosome 16q12-q13.[] […] cysticum ) is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.[1]:672 Types include: Type OMIM Gene Locus MFT1 601606 CYLD 16q12 q13[]

  • Acute Megakaryocytic Leukemia

    The first consistent chromosomal anomaly described in this subset of ANLL was the translocation t(1;22)(p13;q13) which appears to be restricted to this FAB-subtype (FAB-M7[] Abstract We present the nonrandom occurrence, frequency, and degree of immunophenotype association of the t(1;22)(p13;q13) in children with acute nonlymphocytic leukemia ([] Abstract The recurrent t(1;22)(p13;q13) translocation is exclusively associated with infant acute megakaryoblastic leukemia.[]

  • B-Cell Prolymphocytic Leukemia

    The most common translocation reported in patients with this disease is t(11;14)(q13;q32).[] A t(11;14)(q13;q32) was observed in 2 patients in this series and in 2 cases from a previous series of 9 patients studied in this laboratory, giving an incidence in B-PLL[] PMID 8182948 Translocation t(11;14)(q13;q32) in chronic lymphoid disorders.[]

  • Plasma Cell Leukemia

    BACKGROUND: Chromosomal deletion of q13 (del q13) and plasma cell leukemia predict both a worse prognosis in myeloma.[] Of 4 cases, 3 had complex karyotypes, including the t(11;14)(q13;q32) or del(11)(q13).[] Cytogenetic analysis showed translocation of chromosomes 11 and 14, t(11;14) (q13;q32), with additional complex abnormalities.[]

Further symptoms