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Journal Abstract Search

552 related items for PubMed ID: 20603594

  • 1. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
    Lee JH, Cho HS, Lee ES, Jung BC.
    Korean J Lab Med; 2010 Jun; 30(3):312-7. PubMed ID: 20603594
    [Abstract] [Full Text] [Related]

  • 2. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
    Aglan MS, Kamel AK, Helmy NA.
    Genet Couns; 2008 Jun; 19(2):199-209. PubMed ID: 18618995
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  • 3. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.
    In Vivo; 2006 Jun; 20(4):473-8. PubMed ID: 16900777
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  • 5. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Jun; 42(4):215-20. PubMed ID: 10674161
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  • 6. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
    Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.
    Clin Genet; 1994 Dec; 46(6):423-9. PubMed ID: 7889659
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  • 9. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.
    Genet Couns; 2004 Dec; 15(4):405-10. PubMed ID: 15658615
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  • 10. Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.
    Cetin Z, Mihci E, Keser I, Karaali K, Berker S, Luleci G.
    Genet Couns; 2012 Dec; 23(2):239-47. PubMed ID: 22876583
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  • 11. Unique case of trisomy 2p24.3-pter with no associated monosomy.
    Roggenbuck JA, Fink JM, Mendelsohn NJ.
    Am J Med Genet; 2001 Jun 01; 101(1):50-4. PubMed ID: 11343338
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  • 12. [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
    Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.
    Med Wieku Rozwoj; 2006 Jun 01; 10(1 Pt 2):211-25. PubMed ID: 17028390
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  • 13. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Jun 01; 17(1):57-63. PubMed ID: 16719278
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  • 14. Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.
    Schmidt B, Udink ten Cate F, Weiss M, Koehler U.
    Eur J Pediatr; 2012 Jul 01; 171(7):1047-53. PubMed ID: 22302461
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  • 15. 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 01; 25(6):451-5. PubMed ID: 15966060
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  • 16. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.
    Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.
    Am J Med Genet A; 2007 Oct 15; 143A(20):2417-22. PubMed ID: 17853488
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  • 17. Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Eyüpoğlu FC, Sünnetçi D, Cine N, Savli H, Okten A, Açikgöz EG, Sönmez FM.
    Genet Couns; 2014 Oct 15; 25(3):305-13. PubMed ID: 25365853
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  • 18. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.
    Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR.
    Ann Genet; 2004 Oct 15; 47(3):297-303. PubMed ID: 15337476
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  • 19. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.
    Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH.
    Ann Genet; 1989 Oct 15; 32(3):177-9. PubMed ID: 2486064
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  • 20. Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.
    Sohn YB, Yun JN, Park SJ, Park MS, Kim SH, Lee JH.
    Ann Clin Lab Sci; 2013 Oct 15; 43(3):332-6. PubMed ID: 23884231
    [Abstract] [Full Text] [Related]

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