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Journal Abstract Search

392 related items for PubMed ID: 16970038

  • 21. Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas.
    Scheuerle A, Heller K, Elder F.
    Am J Med Genet A; 2005 Oct 01; 138A(2):166-70. PubMed ID: 16152651
    [Abstract] [Full Text] [Related]

  • 22. First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
    Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H.
    Eur J Med Genet; 2006 Oct 01; 49(3):225-34. PubMed ID: 16762824
    [Abstract] [Full Text] [Related]

  • 23. Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies.
    Hirshfeld AB, Thompson WR, Patel A, Boone LB, Murphy AM.
    Am J Med Genet; 2001 May 15; 100(4):264-8. PubMed ID: 11343316
    [Abstract] [Full Text] [Related]

  • 24. Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p.
    De Pater JM, Van Tintelen JP, Stigter R, Brouwers HA, Scheres JM.
    Genet Couns; 2000 May 15; 11(3):241-7. PubMed ID: 11043432
    [Abstract] [Full Text] [Related]

  • 25. Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo.
    Hubert E, Sawicka A, Wasilewska E, Midro AT.
    Genet Couns; 2006 May 15; 17(2):211-8. PubMed ID: 16970040
    [Abstract] [Full Text] [Related]

  • 26. Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin.
    Chen CP, Shih JC, Chern SR, Lee CC, Wang W.
    Prenat Diagn; 2004 Jan 15; 24(1):63-6. PubMed ID: 14755412
    [Abstract] [Full Text] [Related]

  • 27. Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy.
    Chen M, Yeh GP, Shih JC, Wang BT.
    Prenat Diagn; 2004 Feb 15; 24(2):137-43. PubMed ID: 14974123
    [Abstract] [Full Text] [Related]

  • 28. De novo 1q32q44 duplication and distal 1q trisomy syndrome.
    Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J.
    Am J Med Genet A; 2003 Jul 15; 120A(2):229-33. PubMed ID: 12833404
    [Abstract] [Full Text] [Related]

  • 29. Partial mosaic trisomy 5: a new case report with ocular involvement.
    Schlegel Z, Valent A, Hirsch A.
    J Fr Ophtalmol; 2009 Oct 15; 32(8):533-9. PubMed ID: 19664845
    [Abstract] [Full Text] [Related]

  • 30. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-->q24.3)] inherited from a mother mosaic for the abnormality.
    Tonk V, Schneider NR, Delgado MR, Mao J, Schultz RA.
    Am J Med Genet; 1996 Jan 02; 61(1):16-20. PubMed ID: 8741911
    [Abstract] [Full Text] [Related]

  • 31. 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 Jan 02; 18(2):217-26. PubMed ID: 17710874
    [Abstract] [Full Text] [Related]

  • 32. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
    Morava E, Jackson KE, Tsien F, Marble MR.
    Genet Couns; 2004 Jan 02; 15(4):449-53. PubMed ID: 15658621
    [Abstract] [Full Text] [Related]

  • 33. Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.
    Cox H, Stewart H, Hall L, Donnai D.
    Am J Med Genet; 2002 May 15; 109(4):306-10. PubMed ID: 11992485
    [Abstract] [Full Text] [Related]

  • 34. Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
    Van Buggenhout G, De Coen L, Fryns JP.
    Ann Genet; 1998 May 15; 41(2):77-81. PubMed ID: 9706337
    [Abstract] [Full Text] [Related]

  • 35. Prenatal diagnosis of mosaic tetrasomy 5p.
    Park JP, Barefoot KH, Ornvold K, Berg SZ, Dossu JR, Mohandas TK.
    Prenat Diagn; 2001 May 15; 21(5):351-3. PubMed ID: 11360274
    [Abstract] [Full Text] [Related]

  • 36. Prenatal diagnosis of mosaic complete trisomy 1q.
    Schmitt CL, Moldenhauer JS, Wolfe H, Kaiser-Rogers K, Powell CM.
    Am J Med Genet A; 2009 Aug 15; 149A(8):1801-5. PubMed ID: 19610082
    [No Abstract] [Full Text] [Related]

  • 37. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers.
    Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, MacDermont K, Sebire N, Liehr T.
    Prenat Diagn; 2007 Aug 15; 27(8):783-5. PubMed ID: 17546703
    [Abstract] [Full Text] [Related]

  • 38. Genomic instability in multiple myeloma: evidence for jumping segmental duplications of chromosome arm 1q.
    Sawyer JR, Tricot G, Lukacs JL, Binz RL, Tian E, Barlogie B, Shaughnessy J.
    Genes Chromosomes Cancer; 2005 Jan 15; 42(1):95-106. PubMed ID: 15472896
    [Abstract] [Full Text] [Related]

  • 39. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.
    Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR.
    J Med Genet; 1999 Apr 15; 36(4):335-8. PubMed ID: 10227406
    [Abstract] [Full Text] [Related]

  • 40. Issues arising from the prenatal diagnosis of some rare trisomy mosaics--the importance of cryptic fetal mosaicism.
    Daniel A, Wu Z, Darmanian A, Malafiej P, Tembe V, Peters G, Kennedy C, Adès L.
    Prenat Diagn; 2004 Jul 15; 24(7):524-36. PubMed ID: 15300743
    [Abstract] [Full Text] [Related]

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