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Journal Abstract Search

313 related items for PubMed ID: 24751616

  • 1. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray.
    Martínez-Juárez A, Uribe-Figueroa L, Quintana-Palma M, Razo-Aguilera G, Sevilla-Montoya R.
    Cytogenet Genome Res; 2014; 142(4):249-54. PubMed ID: 24751616
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  • 4. Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
    Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP.
    Genet Couns; 2003; 14(2):155-64. PubMed ID: 12872809
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  • 5. Clinical manifestations of partial trisomy 2p.
    Lurie IW.
    Cytogenet Genome Res; 2014; 144(1):28-30. PubMed ID: 25322981
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  • 6. Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
    Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.
    Genet Couns; 2014; 25(1):35-9. PubMed ID: 24783653
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  • 7. Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.
    Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F.
    Genet Couns; 2013; 24(2):179-84. PubMed ID: 24032288
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  • 9. Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.
    Čiuladaitė Ž, Matulevičienė A, Bandanskytė A, Brazaitis A, Kasnauskienė J, Kučinskas V.
    J Child Neurol; 2014 Mar; 29(3):399-405. PubMed ID: 23340083
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  • 10. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
    Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW.
    Clin Dysmorphol; 1993 Jul; 2(3):269-73. PubMed ID: 8287190
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  • 12. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
    Wu D, Zhang H, Hou Q, Wang H, Wang T, Liao S.
    Mol Med Rep; 2017 Nov; 16(5):6222-6227. PubMed ID: 28901405
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  • 14. Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3).
    Skrlec I, Wagner J, Puseljić S, Heffer M, Stipoljev F.
    Coll Antropol; 2014 Jun; 38(2):759-62. PubMed ID: 25145019
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  • 17. A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.
    Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang XL, Viera E, Mechoso B, Bellini S, Costabel M, Vaglio A.
    Genet Test Mol Biomarkers; 2009 Jun; 13(3):387-93. PubMed ID: 19473082
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