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65 Possible Causes for 21q21

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  • Partial Trisomy 21

    Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,-12, t(12pter to 12qter::21q21 to 21q22.?2).[ncbi.nlm.nih.gov] Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,--8, t(8qter 8p23::21q21[ncbi.nlm.nih.gov] FISH and QF PCR analyses identified duplicated loci (D21Z1, D21S1414, D21S1435) spanning from the centromere to band 21q21.[biomed.papers.upol.cz]

  • Usher Syndrome Type I

    Using homozygosity mapping in a consanguineous family from Morocco, we identified a novel locus for USH1, USH1E, mapping to chromosome band 21q21.[ncbi.nlm.nih.gov] At least seven USH1 loci, USH1A-G, have been mapped to the chromosome regions 14q32, 11q13.5, 11p15, 10q21-q22, 21q21, 10q21-q22, and 17q24-25, respectively.[ncbi.nlm.nih.gov] Mutations in as yet unnamed genes in loci at 21q21 (USH1E; 602097 ), 10p11.21-q21.1 (USH1K), and 15q22-q23 (USH1H; 612632 ) may also cause this type I phenotype.[disorders.eyes.arizona.edu]

  • Usher Syndrome Type 1H

    Actin-based motor protein Usher 1C 11q15.1 USH1C Harmonin PDZ-domain containing protein Usher 1D 10q21-q22 CDH23 Cadherin-23 Integral membrane adhesion protein Usher 1E 21q21[institut-vision.org]

  • Usher Syndrome Type 1D

    At least seven USH1 loci, USH1A-G, have been mapped to the chromosome regions 14q32, 11q13.5, 11p15, 10q21-q22, 21q21, 10q21-q22, and 17q24-25, respectively.[wwww.unboundmedicine.com] A newly identifi ed locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet. 1997 Jan;6(1):27-31. 11.[revistamedicina.net]

  • Usher Syndrome, Type 3

    Slim A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21 Hum Mol Genet, 6 (1997), pp. 27-31 [17.] S. Wayne, R.B. Lowry, D.R. McLeod, R.[elsevier.es] A newly identifi ed locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet. 1997 Jan;6(1):27-31. 11.[revistamedicina.net] To date, nine genetic loci for USH1( USH1B-H, J, and K ) have been mapped to chromosomes 11q13.5, 11p15.1, 10q22.1, 21q21, 10q21-q22, 17q24-q25, 15q22-q23 ( USH1H and J ),[journals.plos.org]

  • Homozygous 11p15-p14 Deletion Syndrome

    Mutations in as yet unnamed genes in loci at 21q21 (USH1E; 602097 ), 10p11.21-q21.1 (USH1K), and 15q22-q23 (USH1H; 612632 ) may also cause this type I phenotype.[disorders.eyes.arizona.edu]

  • 2p16.1-P15 Deletion Syndrome

    […] deletion 21q21 缺失 21q21 Chromosome 22q11.2 microduplication syndrome 22q11.2 擴增症候群 22q11.21 608363 Chromosome Xp11.3 deletion syndrome Xp11.3 缺失症候群 Xp11.3 300578 Chromosome[phalanx.com.tw] Gene Target Gene Map Locus 141750 HBA1, HBA2, SOX8 16pter-p13.3 Amyloid beta A4 precursor protein (APP, Alzheimer disease 1) OMIM# Gene Target Gene Map Locus 104760 APP 21q21[questdiagnostics.com] 18p 缺失症候群 18p11.32-p11.31 146390 Chromosome 18p deletion syndrome 18p 缺失症候群 18p11.23-p11.22 146390 Chromosome 18q deletion syndrome 18q 缺失症候群 18q22.3-q23 601808 Chromosome 21q21[phalanx.com.tw]

  • Usher Syndrome Type 1J

    Mutations in as yet unnamed genes in loci at 21q21 (USH1E; 602097 ), 10p11.21-q21.1 (USH1K), and 15q22-q23 (USH1H; 612632 ) may also cause this type I phenotype.[disorders.eyes.arizona.edu]

  • Combined Hyperlipidemia

    We also analyzed the Mexican FCHL families for 26 microsatellite markers residing in the seven chromosomal regions on 2p25.1, 9p23, 10q11.23, 11q13, 16q24.1, 19q13, and 21q21[labs.genetics.ucla.edu]

  • Coxsackie Virus

    The most significant association to ventricular fibrillation was found at 21q21 (rs2824292, odds ratio 1.78, 95% CI 1.47–2.13, P 3.3 10 10 ).[doi.org] Chromosome 21q21 in Arrhythmia Susceptibility The chromosome 21q21 locus had not previously been linked to arrhythmia and the mechanism by which common genetic variation at[doi.org] "Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction" .[en.wikipedia.org]

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