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Journal Abstract Search


364 related items for PubMed ID: 8434625

  • 1. Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.
    Pettenati MJ, Teot LA, Smith C, Hayworth R, Thomas IT, Veille JC, Rao PN.
    Am J Med Genet; 1993 Feb 01; 45(3):365-9. PubMed ID: 8434625
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  • 2. Mosaicism with a normal cell line and an unbalanced structural rearrangement.
    Zaslav AL, Fallet S, Blumenthal D, Jacob J, Fox J.
    Am J Med Genet; 1999 Jan 01; 82(1):15-9. PubMed ID: 9916836
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  • 3. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.
    Hsu LY.
    Am J Med Genet; 1994 Nov 01; 53(2):108-40. PubMed ID: 7856637
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  • 4. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W.
    Prenat Diagn; 2006 Feb 01; 26(2):138-46. PubMed ID: 16470734
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  • 5. Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature.
    Melaragno MI, Fakih LM, Cernach MC, Maccagnan P.
    Am J Med Genet; 1993 Sep 01; 47(3):357-9. PubMed ID: 8135281
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  • 8. Monosomy 11q: report of two familial cases and review of the literature.
    Hustinx R, Verloes A, Grattagliano B, Herens C, Jamar M, Soyeur D, Schaaps JP, Koulischer L.
    Am J Med Genet; 1993 Sep 01; 47(3):312-7. PubMed ID: 8135272
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  • 10. 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
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  • 12. Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
    Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ.
    Eur J Med Genet; 2011 Jan 01; 54(2):161-4. PubMed ID: 21078420
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  • 14. New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.
    Merlob P, Kohn G, Litwin A, Nissenkorn I, Katznelson MB, Reisner SH.
    Am J Med Genet; 1989 Jan 01; 32(1):22-6. PubMed ID: 2705479
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  • 15. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.
    Eur J Med Genet; 2006 Jan 01; 49(5):431-8. PubMed ID: 16497571
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  • 17. 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
    Grammatico P, Majore S, Marrocco G, Poscente M, Mordenti C, Grammatico B, Del Porto G.
    Genet Couns; 1999 Jan 01; 10(4):351-8. PubMed ID: 10631922
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  • 18. Functional disomy of the Xq28 chromosome region.
    Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C.
    Eur J Hum Genet; 2005 May 01; 13(5):579-85. PubMed ID: 15741994
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  • 19. X-inactivation pattern in three cases of X/autosome translocation.
    Zabel BU, Baumann WA, Pirntke W, Gerhard-Ratschow K.
    Am J Med Genet; 1978 May 01; 1(3):309-17. PubMed ID: 677170
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  • 20. Prenatal diagnosis of the distal 11q deletion and review of the literature.
    Chen CP, Chern SR, Chang TY, Tzen CY, Lee CC, Chen WL, Chen LF, Wang W.
    Prenat Diagn; 2004 Feb 01; 24(2):130-6. PubMed ID: 14974122
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