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531 related items for PubMed ID: 12124737

  • 1. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
    Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D.
    Am J Med Genet; 2002 Jul 22; 111(1):61-7. PubMed ID: 12124737
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  • 2. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
    Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G.
    J Med Genet; 1999 Jan 22; 36(1):77-82. PubMed ID: 9950374
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  • 3. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
    Jalal SM, Martin JA, Benjamin TR, Kukolich MK, Townsend-Parcham JK.
    Ann Genet; 1990 Jan 22; 33(3):173-5. PubMed ID: 2288463
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  • 4. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.
    Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.
    Am J Med Genet; 1995 Mar 27; 56(2):219-33. PubMed ID: 7625449
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  • 5. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia.
    Zhang L, Parkhurst JB, Kern WF, Scott KV, Niccum D, Mulvihill JJ, Li S.
    Chin Med J (Engl); 2003 Sep 27; 116(9):1298-303. PubMed ID: 14527352
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  • 6. Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature.
    Cantú ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA.
    Am J Med Genet; 1996 Apr 24; 62(4):330-5. PubMed ID: 8723059
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  • 10. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.
    Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C.
    Am J Med Genet; 1994 Aug 15; 52(2):136-45. PubMed ID: 7801998
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  • 12. Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
    Su PH, Chen CP, Su YN, Chen SJ, Lin LL, Chen JY.
    Genet Mol Res; 2013 Apr 25; 12(2):1311-7. PubMed ID: 23661454
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  • 14. An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
    Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA.
    Epilepsy Res; 2008 Aug 25; 80(2-3):219-23. PubMed ID: 18485670
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  • 15. Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.
    Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A.
    Eur J Med Genet; 2007 Aug 25; 50(6):441-5. PubMed ID: 17851150
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  • 17. New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.
    de Azevedo Moreira LM, Freitas LM, Gusmão FA, Riegel M.
    Birth Defects Res A Clin Mol Teratol; 2003 Dec 25; 67(12):985-8. PubMed ID: 14745919
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