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Journal Abstract Search

108 related items for PubMed ID: 1640434

  • 1. Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).
    Smith NM, Fernandez H, Chambers HM, Callen DF.
    J Med Genet; 1992 Jul; 29(7):503-6. PubMed ID: 1640434
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  • 2. Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.
    Alkan M, Ramelli GP, Hirsiger H, Keser I, Remonda L, Bühler EM, Moser H.
    Genet Couns; 2002 Jul; 13(2):151-6. PubMed ID: 12150215
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  • 3. Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.
    Nowaczyk MJ, Ramsay JA, Mohide P, Tomkins DJ.
    Am J Med Genet; 1998 May 26; 77(4):306-9. PubMed ID: 9600741
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  • 4. Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p.
    Wang JC, Nemana L, Kou SY, Habibian R, Hajianpour MJ.
    Am J Med Genet; 1997 Sep 05; 71(4):463-6. PubMed ID: 9286456
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  • 5. Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.
    Duval E, van den Enden A, Vanhaesebrouck P, Speleman F.
    Am J Med Genet; 1994 Aug 15; 52(2):214-7. PubMed ID: 7802011
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  • 6. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
    Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC, Seuánez HN, Vargas FR.
    Eur J Med Genet; 2008 Aug 15; 51(6):588-97. PubMed ID: 18674646
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  • 9. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.
    Gustashaw KM, Zurcher V, Dickerman LH, Stallard R, Willard HF.
    Am J Med Genet; 1994 Oct 15; 53(1):39-45. PubMed ID: 7802034
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  • 10. De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis).
    Pala HG, Artunc-Ulkumen B, Uyar Y, Bal F, Baytur YB, Koyuncu FM.
    Fetal Pediatr Pathol; 2015 Feb 15; 34(1):44-8. PubMed ID: 25289481
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  • 12. Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
    Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.
    J Appl Genet; 2005 Feb 15; 46(4):419-21. PubMed ID: 16278518
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  • 14. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.
    Courtens W, Petersen MB, Noël JC, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae MR, Van Roy N, Speleman F.
    Am J Med Genet; 1994 Jul 01; 51(3):260-5. PubMed ID: 8074156
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  • 15. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
    Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F.
    Am J Med Genet; 1991 Aug 01; 40(2):196-8. PubMed ID: 1897574
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  • 18. A rare case of monosomy 18p: translocation between chromosomes 18 and 21.
    Tos T, Karaman A, Aycan Z, Tükün A.
    Genet Couns; 2011 Aug 01; 22(2):227-31. PubMed ID: 21848017
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  • 20. 10p duplication characterized by fluorescence in situ hybridization.
    Wiktor A, Feldman GL, Kratkoczki P, Ditmars DM, Van Dyke DL.
    Am J Med Genet; 1994 Sep 01; 52(3):315-8. PubMed ID: 7528972
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