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Journal Abstract Search

261 related items for PubMed ID: 12457409

  • 1. Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies.
    Kulharya AS, Lovell CM, Flannery DB.
    Am J Med Genet; 2002 Dec 15; 113(4):367-70. PubMed ID: 12457409
    [Abstract] [Full Text] [Related]

  • 2. Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
    Tachdjian G, Muti C, Gaudelus J, Druart L, Martin B, Tamboise E, Nessmann C.
    Ann Genet; 1992 Dec 15; 35(4):231-3. PubMed ID: 1296521
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  • 3. Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.
    Xu J, Chernos J, Roland B.
    Am J Med Genet; 1997 Dec 19; 73(3):327-9. PubMed ID: 9415693
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  • 4. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.
    Shaffer LG, Spikes AS, Macha M, Dunn R.
    J Reprod Med; 1996 May 19; 41(5):367-71. PubMed ID: 8725766
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  • 5. 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 May 19; 32(3):177-9. PubMed ID: 2486064
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  • 6. High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22).
    Francisco-Bagnariolli AM, Payão SL, Kawasaki-Oyama RS, Sabbag Filho D, Segato R, de Labio RW, Chauffaille ML, Priest JH.
    Am J Med Genet; 2001 Nov 01; 103(4):302-7. PubMed ID: 11746010
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  • 7. A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21.
    Hu J, Shekhter-Levin S, Shaw PH, Bay C, Kochmar S, Surti U.
    Cancer Genet Cytogenet; 2005 Jan 01; 156(1):62-7. PubMed ID: 15588858
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  • 8. Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.
    Fryns JP, Kleczkowska A, Van Den Berghe H.
    Genet Couns; 1990 Jan 01; 1(2):173-7. PubMed ID: 2081001
    [No Abstract] [Full Text] [Related]

  • 9. Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.
    Paoloni-Giacobino A, Bottani A, Dahoun SP.
    Ann Genet; 1999 Jan 01; 42(3):166-9. PubMed ID: 10526660
    [Abstract] [Full Text] [Related]

  • 10. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.
    Zackai EH, Emanuel BS.
    Am J Med Genet; 1980 Jan 01; 7(4):507-21. PubMed ID: 7211960
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  • 11. Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).
    Rosenmann A, Isacson M, Cohen R, Segal M, Cohen MM.
    Ann Genet; 1978 Mar 01; 21(1):60-4. PubMed ID: 308346
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 36(1):77-82. PubMed ID: 9950374
    [Abstract] [Full Text] [Related]

  • 13. Mosaic trisomy 21/monosomy 21 in a living female infant.
    Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A.
    Cytogenet Genome Res; 2009 Jan 01; 125(1):26-32. PubMed ID: 19617693
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  • 16. 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 Jan 01; 23(2):239-47. PubMed ID: 22876583
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  • 17. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
    Devriendt K, Matthijs G, Meireleire J, Roelen L, van Buggenhout G, Fryns JP.
    Genet Couns; 1998 Jan 01; 9(4):283-6. PubMed ID: 9894166
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  • 19. [Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband].
    Nazarenko SA, Nazarenko LP, Baranova VA.
    Tsitol Genet; 1987 Jan 01; 21(6):434-7. PubMed ID: 3445362
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  • 20. Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism.
    Habecker-Green JG, Naeem R, Gold H, O'Grady JP, Kanaan C, Bayer-Zwirello L, Murray MS, Cohn GM.
    J Perinatol; 1998 Jan 01; 18(5):395-8. PubMed ID: 9766419
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