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Journal Abstract Search


326 related items for PubMed ID: 9192276

  • 21. 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.
    Rodovalho-Doriqui MJ, Freitas PL, Pinho JD, Cavalli LR, Pereira SR.
    Genet Mol Res; 2013 Jul 24; 12(3):2562-6. PubMed ID: 23979887
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  • 23. [Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].
    Schürmann M, Wethling H, Niemeyer ML, Schwinger E.
    Klin Padiatr; 1987 Jul 24; 199(1):27-31. PubMed ID: 2435950
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  • 24. A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3.
    Quigley DI, Sailus J, Kaiser-Rogers K, Rao KW, Calikoglu M, Gold S, McCandless SE.
    Am J Med Genet A; 2005 Jan 01; 132A(1):101-5. PubMed ID: 15580640
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  • 25. Precocious puberty associated with partial trisomy 18q and monosomy 11q.
    Mutesa L, Hellin AC, Jamar M, Pierquin G, Bours V, Verloes A.
    Genet Couns; 2007 Jan 01; 18(2):201-7. PubMed ID: 17710872
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  • 26. Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.
    Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G.
    Clin Genet; 1997 Aug 01; 52(2):126-9. PubMed ID: 9298749
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  • 27. Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.
    Semerci CN, Bahce M, Atik F, Candemir Z, Kiraz IK, Zorlu P, Gül D.
    Ann Genet; 2004 Aug 01; 47(4):393-8. PubMed ID: 15581838
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  • 28. Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.
    Keppler-Noreuil KM, Welch JL, Major HJ, Qiau Q, Jordan DK, Patil SR.
    Dev Med Child Neurol; 2002 Jan 01; 44(1):64-7. PubMed ID: 11811653
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  • 31. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S, Aypar E, Beksaç MS, Bartsch O.
    Genet Couns; 2009 Jan 01; 20(2):125-32. PubMed ID: 19650409
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  • 34. Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23).
    Dufke A, Mayrhofer H, Enders H, Kaiser P, Leipoldt M.
    Cytogenet Cell Genet; 2001 Jan 01; 93(3-4):168-70. PubMed ID: 11528107
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  • 35. 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 Jan 01; 25(3):305-13. PubMed ID: 25365853
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  • 36. 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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  • 37. Trisomy 18q: 46,XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46,XY,-13,+der(13),t(13;18)(q32;q11).
    Murthy DS, Patel ZM, Ambani LM.
    Clin Genet; 1980 Oct 01; 18(4):233-8. PubMed ID: 7438504
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  • 38. Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.
    Tan EC, Lim E, Cham B, Knight L, Ng I.
    Cytogenet Genome Res; 2011 Oct 01; 134(4):319-24. PubMed ID: 21654159
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  • 39. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
    Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H.
    J Med Genet; 1996 Nov 01; 33(11):952-6. PubMed ID: 8950677
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  • 40. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
    Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.
    Eur J Med Genet; 2006 Nov 01; 49(5):402-13. PubMed ID: 16488200
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