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Journal Abstract Search

580 related items for PubMed ID: 20420036

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
    Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.
    J Appl Genet; 2005; 46(4):419-21. PubMed ID: 16278518
    [Abstract] [Full Text] [Related]

  • 3. Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).
    Delaroche I, Bruni L, Giannotti A, Giampaolo R, Aebischer ML.
    Helv Paediatr Acta; 1984 May; 39(2):161-6. PubMed ID: 6543839
    [Abstract] [Full Text] [Related]

  • 4. [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
    [Abstract] [Full Text] [Related]

  • 5. [Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods].
    Stankiewicz P, Korniszewski L, Bocian E, Stańczak H.
    Pediatr Pol; 1996 Mar; 71(3):241-5. PubMed ID: 8966096
    [Abstract] [Full Text] [Related]

  • 6. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
    Aglan MS, Kamel AK, Helmy NA.
    Genet Couns; 2008 Mar; 19(2):199-209. PubMed ID: 18618995
    [Abstract] [Full Text] [Related]

  • 7. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
    Zhu CJ, Huang ZY, Wu WQ, Zhao Q, Jiang HY, Xie JS.
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):460-4. PubMed ID: 22931946
    [Abstract] [Full Text] [Related]

  • 8. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
    Mark HF, Wyandt H, Huang XL, Milunsky JM.
    Clin Genet; 2005 Aug; 68(2):146-51. PubMed ID: 15996211
    [Abstract] [Full Text] [Related]

  • 9. Familial trisomy 20p five cases and two carriers in three generations a review.
    Centerwall W, Francke U.
    Ann Genet; 1977 Jun; 20(2):77-83. PubMed ID: 302689
    [Abstract] [Full Text] [Related]

  • 10. Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation.
    Hou JW.
    Chang Gung Med J; 2003 Jan; 26(1):48-52. PubMed ID: 12656309
    [Abstract] [Full Text] [Related]

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  • 12. 8q22-->qter duplication in a child with multiple congenital malformations: case report.
    Sasiadek M, Stembalska A, Schlade K, Zych M.
    Med Sci Monit; 2000 Jan; 6(1):141-4. PubMed ID: 11208302
    [Abstract] [Full Text] [Related]

  • 13. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Jan; 19(4):365-71. PubMed ID: 19239079
    [Abstract] [Full Text] [Related]

  • 14. 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; 41(5):367-71. PubMed ID: 8725766
    [Abstract] [Full Text] [Related]

  • 15. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
    Eur J Med Genet; 2005 May; 48(3):355-9. PubMed ID: 16179232
    [Abstract] [Full Text] [Related]

  • 16. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
    Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers JM, Smeets D.
    Eur J Hum Genet; 2000 Aug; 8(8):637-40. PubMed ID: 10951526
    [Abstract] [Full Text] [Related]

  • 17. Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.
    Lin CC, Hsieh YY, Wang CH, Li YC, Hsieh LJ, Lee CC, Tsai CH, Tsai FJ.
    Prenat Diagn; 2006 Oct; 26(10):898-902. PubMed ID: 16915592
    [Abstract] [Full Text] [Related]

  • 18. Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature.
    Hacihanefioğlu S, Güven GS, Deviren A, Silahtaroğlu AN, Yosunvkaya Fenerci E, Ozkiliç A, Yüksel A.
    Genet Couns; 2002 Oct; 13(1):41-8. PubMed ID: 12017237
    [Abstract] [Full Text] [Related]

  • 19. Meiotic segregation in familial reciprocal translocation t(8q;22q).
    Gödde-Salz E, Oesinghaus S, Grote W.
    Am J Med Genet; 1982 Feb; 11(2):241-7. PubMed ID: 7065009
    [Abstract] [Full Text] [Related]

  • 20. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
    Batista DA, Pai GS, Stetten G.
    Am J Med Genet; 1994 Nov 15; 53(3):255-63. PubMed ID: 7856662
    [Abstract] [Full Text] [Related]

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