Create issue ticket

656 Possible Causes for 1q21

Show results in: 日本語

  • Hematopoietic Stem Cell Transplantation

    […] with MM, he had no mutation of TP53 and MYC in FISH, but at a relapse with testicular plasmacytoma, some high-risk karyotypes were detected, including amplification with 1q21[ncbi.nlm.nih.gov]

  • Well-Differentiated Liposarcoma

    In particular, increased copy numbers of 789f2, a marker for 1q21 amplification in sarcomas, was observed in more than 65% of the cells in the metastatic samples, but in less[ncbi.nlm.nih.gov]

  • Pineoblastoma

    In addition, we identified novel recurrent somatic gains involving chromosomal region 1q21 that were confirmed by FISH and ddPCR in 4/5 PB patients.[cancerres.aacrjournals.org] We also identified novel, highly recurrent somatic focal gains involving chromosomal region 1q21, which has been linked to brain growth, autism and schizophrenia, but not[cancerres.aacrjournals.org]

  • Dyschromatosis symmetrica hereditaria

    We identified a locus at chromosome 1q11-1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction 0.00).[ncbi.nlm.nih.gov] This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9.4-cM interval at 1q21-22.[ncbi.nlm.nih.gov] The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase[ncbi.nlm.nih.gov]

  • Ichthyosis

    The gene responsible for ichthyosis vulgaris has been mapped to chromosome band 1q21.[medicinenet.com]

  • Aberrant Right Subclavian Artery

    The fifth fetus had increased nuchal translucency thickness (4 mm) and a ventricular septal defect, and CMA identified both 22q11 deletion and 1q21 duplication.[ncbi.nlm.nih.gov]

  • Neuroepithelioma

    On chromosome analysis of a metastasis, a stemline with karyotype 47,XY, der1 (1 qter---1 cen::1q21---1 qter) was identified.[ncbi.nlm.nih.gov] On chromosome analysis of a metastasis, a stemline with karyotype 47,XY, der1(1 qter... 1 cen::1q21...1 qter) was identified.[link.springer.com]

  • Ectopia Lentis

    Recently in a consanguineous Jordanian family, recessive EL was mapped to locus 1q21 containing the ADAMTSL4 gene and a nonsense mutation was found in exon 11 (c.1785T G,[ncbi.nlm.nih.gov] Recently, mutations in a disintegrin-like and metalloproteinase domain with thrombospondin type 1 motifs-like (ADAMTSL-4) linked to chromosome 1q21 has been reported in autosomal[annalsofian.org]

  • Thyrotoxic Periodic Paralysis

    There was no association of TPP with the microsatellite markers that mapped to 1p13, 1q21-23, and 1q22-25.[ncbi.nlm.nih.gov]

  • Dedifferentiated Liposarcoma

    Finally, we demonstrate that in tumors without amplification/overexpression of CDK4, the chromosome 1q21-1q23 region is a preferential partner of chromosome 12 amplicon, suggesting[ncbi.nlm.nih.gov] Metaphase-based comparative genomic hybridization analysis showed high-level amplifications of 1q21-q25 and 12q13-q21.[ncbi.nlm.nih.gov] Chromosomal imbalances additionally to the 12q13-q15 amplicon, including amplifications in 1p32 (including JUN ), 1q21-q24, and/or 6q23 (including the ASK1 or MAP3K5 gene)[frontiersin.org]

Further symptoms