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Journal Abstract Search

576 related items for PubMed ID: 17375530

  • 1. An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature.
    Wang CB, Lin SP, Chen CP, Chen YJ, Lee CC.
    Genet Couns; 2006; 17(4):435-40. PubMed ID: 17375530
    [Abstract] [Full Text] [Related]

  • 2. Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.
    Işik U, Başaran S, Dehgan T, Apak M.
    Pediatr Neurol; 2008 Jul; 39(1):55-7. PubMed ID: 18555175
    [Abstract] [Full Text] [Related]

  • 3. Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.
    Frints SG, Schrander-Stumpel CT, Engelen JJ, Da Costa AJ, Fryns JP.
    Genet Couns; 1996 Jul; 7(2):135-42. PubMed ID: 8831133
    [Abstract] [Full Text] [Related]

  • 4. Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
    Plotner PL, Smith JL, Northrup H.
    Am J Med Genet; 2002 Jul 22; 111(1):71-5. PubMed ID: 12124739
    [Abstract] [Full Text] [Related]

  • 5. Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
    Bregant L, Gersak K, Veble A.
    Genet Couns; 2005 Jul 22; 16(1):59-63. PubMed ID: 15844780
    [Abstract] [Full Text] [Related]

  • 6. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M, Hemly NA, Zaki MS.
    Genet Couns; 2007 Jul 22; 18(2):217-26. PubMed ID: 17710874
    [Abstract] [Full Text] [Related]

  • 7. Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia.
    Wouters CH, van Bodegom TM, Moll HA, Govaerts LC.
    Ann Genet; 1999 Jul 22; 42(3):160-5. PubMed ID: 10526659
    [Abstract] [Full Text] [Related]

  • 8. Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes.
    Byatt SA, Baker E, Richards RI, Roberts C, Smith A.
    Am J Med Genet; 1997 Jun 27; 70(4):357-60. PubMed ID: 9182774
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 27; 24(2):179-84. PubMed ID: 24032288
    [Abstract] [Full Text] [Related]

  • 10. Translocation/duplication of 9p onto a duplicated 4q.
    Rivera H, Figuera LE, Vasquez AI.
    Genet Couns; 1992 Jun 27; 3(4):201-3. PubMed ID: 1472355
    [Abstract] [Full Text] [Related]

  • 11. Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
    van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC.
    Genet Couns; 1992 Jun 27; 3(2):83-9. PubMed ID: 1642815
    [Abstract] [Full Text] [Related]

  • 12. Partial trisomy 17q and monosomy 9p due to a familial translocation.
    Cotter PD, Stewart NL.
    Ann Genet; 1990 Jun 27; 33(4):231-3. PubMed ID: 1710432
    [Abstract] [Full Text] [Related]

  • 13. Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.
    Xu J, Chernos J, Roland B.
    Am J Med Genet; 1997 Dec 19; 73(3):327-9. PubMed ID: 9415693
    [Abstract] [Full Text] [Related]

  • 14. Precocious puberty associated with partial trisomy 18q and monosomy 11q.
    Mutesa L, Hellin AC, Jamar M, Pierquin G, Bours V, Verloes A.
    Genet Couns; 2007 Dec 19; 18(2):201-7. PubMed ID: 17710872
    [Abstract] [Full Text] [Related]

  • 15. Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy.
    De Rosa G, Pardeo M, Bria S, Caresta E, Vasta I, Zampino G, Zollino M, Zuppa AA, Piastra M.
    Eur J Pediatr; 2005 Apr 19; 164(4):255-6. PubMed ID: 15666158
    [No Abstract] [Full Text] [Related]

  • 16. 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 19; 16(5):6222-6227. PubMed ID: 28901405
    [Abstract] [Full Text] [Related]

  • 17. Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.
    Hegmann KM, Spikes AS, Orr-Urtreger A, Shaffer LG.
    Am J Med Genet; 1996 Jan 02; 61(1):10-5. PubMed ID: 8741910
    [Abstract] [Full Text] [Related]

  • 18. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
    Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.
    Eur J Med Genet; 2008 Jan 02; 51(2):113-23. PubMed ID: 18262484
    [Abstract] [Full Text] [Related]

  • 19. [Partial trisomy 11q 46, XX, 4q+ by translocation t (4; 11) (q35; q12)].
    Le Chevalier C, Chabrolle JP, Rossier A.
    Ann Pediatr (Paris); 1978 Nov 02; 25(9):501-4, 507. PubMed ID: 16114368
    [No Abstract] [Full Text] [Related]

  • 20. Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation.
    Frints SG, Moerman P, Fryns JP.
    Genet Couns; 1996 Nov 02; 7(4):313-9. PubMed ID: 8985736
    [Abstract] [Full Text] [Related]

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