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Journal Abstract Search

167 related items for PubMed ID: 12884434

  • 21. Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies.
    Neu RL, Kousseff BG, Madan S, Essig YP, Miller K, Tedesco TA.
    Clin Genet; 1988 Feb; 33(2):73-7. PubMed ID: 3359669
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  • 26. 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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  • 28. Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.
    Cantú ES, Thomas IT, Frias JL.
    Clin Genet; 1989 Sep; 36(3):189-95. PubMed ID: 2676269
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  • 29. Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
    Bocian E, Mazurczak T, Buława E, Stańczak H, Rowicka G.
    J Med Genet; 1993 Jul; 30(7):614-5. PubMed ID: 8411041
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  • 30. Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.
    Caliebe A, Waltz S, Jenderny J.
    Clin Genet; 1997 Aug; 52(2):116-9. PubMed ID: 9298747
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  • 31. Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).
    Stoll C, Levy J, Roth MP.
    J Med Genet; 1980 Dec; 17(6):486-7. PubMed ID: 7205434
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  • 32. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.
    Akahoshi K, Spritz RA, Fukai K, Mitsui N, Matsushima K, Ohashi H.
    Am J Med Genet A; 2004 Apr 30; 126A(3):290-2. PubMed ID: 15054844
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  • 33. Mosaic deletion of 20pter due to rescue by somatic recombination.
    Martin MM, Vanzo RJ, Sdano MR, Baxter AL, South ST.
    Am J Med Genet A; 2016 Jan 30; 170A(1):243-8. PubMed ID: 26436922
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  • 34. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).
    Schnittger S, Höfers C, Heidemann P, Beermann F, Hansmann I.
    Hum Genet; 1989 Oct 30; 83(3):239-44. PubMed ID: 2793167
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  • 35. Monosomy 22 with mosaicism.
    Moghe MS, Patel ZM, Peter JJ, Ambani LM.
    J Med Genet; 1981 Feb 30; 18(1):71-3. PubMed ID: 7253004
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  • 36. Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring.
    Mercier S, Bresson JL.
    Hum Genet; 1997 Jan 30; 99(1):42-6. PubMed ID: 9003492
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  • 37. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F.
    Am J Med Genet A; 2009 Jun 30; 149A(6):1323-6. PubMed ID: 19449416
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  • 38. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
    J Med Genet; 2001 Dec 30; 38(12):885-8. PubMed ID: 11768396
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  • 39. Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).
    Vermeesch JR, Fryns JP.
    Am J Med Genet A; 2003 Jul 15; 120A(2):299-300. PubMed ID: 12833421
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  • 40. Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report.
    Durmaz CD, Yararbaş K, Kutlay NY, Türedi Ö, Akın İ, Gürbüz C, Karataş G, Tükün A.
    Cytogenet Genome Res; 2016 Jul 15; 148(1):19-24. PubMed ID: 27166162
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