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11 Possible Causes for 21q11

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  • DiGeorge Syndrome

    The asymptomatic father had a mosaic karyotype with a 21q11 deletion in three different cell lines.[ncbi.nlm.nih.gov]

  • Acute Myelocytic Leukemia

    Deletion at 20q and juxtaposition between 20q11 and 21q11 appear to be the critical genomic events.[ncbi.nlm.nih.gov]

  • Mediterranean Macrothrombocytopenia

    . - Type 2B Platelet Type vWD Paris-Trousseau Syndrome Mediterranean Macrothrombocytopenia Bernard-Soulier Syndrome MYH9-related disorders 21q11 deletion syndrome... - Kanaji[wordaz.com]

  • Braddock-Carey Syndrome

    At least 45 patients with partial deletion involving 21q11 have been reported.[researchgate.net]

  • Ring Chromosome 21

    Patients with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have minor anomalies and mental retardation, but not hypogammaglobulinaemia. 16 In this context[adc.bmj.com] TY, Ll, and AL Genotype (b) of Family of TY Family of LI Family of AL Locus, LOCALIZATION (a) Father Mother Child Father Mother Child Father Mother Child D21S215(GT14), 21q11[publications.fondationlejeune.org] […] tumor-transforming gene protein-binding factor) (PBF) (PTTG-binding factor) [C21orf1] [C21orf3] PWP2 21q22.3 Q15269 PWP2_HUMAN 601475 Periodic tryptophan protein 2 homolog [PWP2H] RBM11 21q11[uniprot.org]

  • Emanuel Syndrome

    F 19-U-15 der(18)t(18;21 or 22) fam n.a. n.a. 18-CW-2 der(21)t(4;21)(q32.1;q21.2) mat - F 21-U-15 der(21)t(7;21)(p21;q21.3) mat - M 21-U-7 der(13/21;22)(13/21pter   13/21q11[molecularcytogenetics.biomedcentral.com] […] q22 16p13.2 17p10   q11 17q25.3 2 21q21.2   21.3 5q35 14q11.1   11.2 15q13 3 22q11.21   q12 4 15q10   q11.1 5 8p22   p23 9 22q11.1   11.21 10 22q10   22q11.1 11 8q24.1 13/21q11[molecularcytogenetics.biomedcentral.com]

  • Monosomy 21q

    TY, Ll, and AL Genotype (b) of Family of TY Family of LI Family of AL Locus, LOCALIZATION (a) Father Mother Child Father Mother Child Father Mother Child D21S215(GT14), 21q11[publications.fondationlejeune.org]

  • Ring Chromosome 21 Syndrome

    Patients with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have minor anomalies and mental retardation, but not hypogammaglobulinaemia. 16 In this context[adc.bmj.com] TY, Ll, and AL Genotype (b) of Family of TY Family of LI Family of AL Locus, LOCALIZATION (a) Father Mother Child Father Mother Child Father Mother Child D21S215(GT14), 21q11[publications.fondationlejeune.org]

  • Carpotarsal Osteochondromatosis

    Cartilage-derivedmorphogenic pro-tein 1Hunter-Thompson dysplasia AR 20q11.2 CDMP1 Cartilage-derivedmorphogenic pro-tein 1Brachydactyly type A1A4 AD Brachydactyly type B AD Brachydactyly type C AD 21q11[documents.tips]

  • Dappled Diaphyseal Dysplasia

    Cartilage-derivedmorphogenic pro-tein 1Hunter-Thompson dysplasia AR 20q11.2 CDMP1 Cartilage-derivedmorphogenic pro-tein 1Brachydactyly type A1A4 AD Brachydactyly type B AD Brachydactyly type C AD 21q11[dokumen.tips] […] dysplasia AR 201250 20q11.2 CDMP1 Cartilage-derivedmorphogenicprotein 1601146Brachydactyly type A1A4 AD 112500-800 Brachydactyly type B AD 113000 Brachydactyly type C AD 133100 21q11[documents.tips]

Further symptoms