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Journal Abstract Search

95 related items for PubMed ID: 1610122

  • 21. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
    Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N.
    Am J Med Genet; 1989 Aug; 33(4):505-7. PubMed ID: 2596512
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  • 22. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
    Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP.
    Genet Couns; 2002 Aug; 13(1):1-10. PubMed ID: 12017231
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  • 23. De novo trisomy 22 due to an extra 22Q-chromosome.
    Stoll C, Medeiros P, Pécheur H, Schnebelen A.
    Ann Genet; 1997 Aug; 40(4):217-21. PubMed ID: 9526616
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  • 25. Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
    Van Buggenhout G, De Coen L, Fryns JP.
    Ann Genet; 1998 Aug; 41(2):77-81. PubMed ID: 9706337
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  • 26. Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23).
    Solé MT, Rivera H, Sánchez-Corona J, Plascencia L, Cantú JM.
    Ann Genet; 1983 Aug; 26(2):120-2. PubMed ID: 6604487
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  • 30. 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 Aug; 18(2):217-26. PubMed ID: 17710874
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  • 33. Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3).
    Kleczkowska A, Decock P, van den Berghe H, Fryns JP.
    Genet Couns; 1994 Aug; 5(4):393-7. PubMed ID: 7888144
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  • 35. Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.
    San Martin V, Fernandez-Novoa C, Hevia A, Novales A, Fornell J, Galera H.
    Ann Genet; 1981 Aug; 24(4):248-50. PubMed ID: 6977308
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  • 36. C-band polymorphism: comparison between trisomy 21 cases and mentally retarded controls.
    Funderburk SJ, Klisak I, Sparkes RS, Westlake J.
    Am J Med Genet; 1980 Aug; 5(3):265-9. PubMed ID: 6447457
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  • 37. De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).
    Debiec-Rychter M, Overhauser J, Kałuźewski B, Jakubowski L, Truszczak B, Wilson W, Skorski M, Jackson L.
    Am J Med Genet; 1990 Jul; 36(3):316-20. PubMed ID: 2363431
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  • 39. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.
    Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
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  • 40. Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.
    Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H.
    Ann Genet; 1987 Jun; 30(3):186-8. PubMed ID: 3499858
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