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Journal Abstract Search

1299 related items for PubMed ID: 19239079

  • 21. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.
    Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.
    Genet Couns; 2010; 21(1):99-108. PubMed ID: 20420036
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  • 24. Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion.
    Chen CP, Lin SP, Chern SR, Shih SL, Lee CC, Wang W, Liao YW.
    Prenat Diagn; 2003 Jun; 23(6):504-8. PubMed ID: 12813767
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  • 26. [Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].
    Xiao B, Zhang JM, Ji X, Jiang WT, Hu J, Tao J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):247-50. PubMed ID: 21644216
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  • 27. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
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  • 28. A new case of a severe clinical phenotype of the cat-eye syndrome.
    Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF.
    Genet Couns; 2004 Sep; 15(4):443-8. PubMed ID: 15658620
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  • 29. A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly.
    Verhoeven W, Ruiter M, Egger J, Tuinier S, Smeets D.
    Genet Couns; 2009 Sep; 20(1):45-51. PubMed ID: 19400541
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  • 30. Duplication 6q syndrome.
    Tipton RE, Berns JS, Johnson WE, Wilroy RS, Summitt RL.
    Am J Med Genet; 1979 Sep; 3(4):325-30. PubMed ID: 474632
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  • 33. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
    Clin Genet; 2007 Feb; 71(2):177-82. PubMed ID: 17250668
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  • 34. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
    Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.
    Eur J Med Genet; 2008 Feb; 51(2):113-23. PubMed ID: 18262484
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  • 35. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
    Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
    Genet Couns; 2011 Feb; 22(1):35-40. PubMed ID: 21614986
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  • 36. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R.
    Eur J Med Genet; 2008 Feb; 51(4):332-42. PubMed ID: 18316257
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  • 37. Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.
    Vásquez-Velásquez AI, García-Castillo HA, González-Mercado MG, Dávalos IP, Raca G, Xu X, Dwyer E, Rivera H.
    Cytogenet Genome Res; 2011 Feb; 132(4):233-8. PubMed ID: 21063078
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  • 38. Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
    Tschernigg M, Petek E, Wagner K, Kroisel PM.
    Genet Couns; 2002 Feb; 13(1):29-33. PubMed ID: 12017235
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  • 39. Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
    Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP.
    Genet Couns; 2003 Feb; 14(2):155-64. PubMed ID: 12872809
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  • 40. De novo trisomy 22 due to an extra 22Q-chromosome.
    Stoll C, Medeiros P, Pécheur H, Schnebelen A.
    Ann Genet; 1997 Feb; 40(4):217-21. PubMed ID: 9526616
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