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Journal Abstract Search

451 related items for PubMed ID: 18564498

  • 1. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
    Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O.
    Genet Couns; 2008; 19(1):29-35. PubMed ID: 18564498
    [Abstract] [Full Text] [Related]

  • 2. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
    Morava E, Bartsch O, Czakó M, Frensel A, Kalscheuer V, Kárteszi J, Kosztolányi G.
    Clin Dysmorphol; 2003 Apr; 12(2):123-7. PubMed ID: 12868476
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  • 3. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
    Cai T, Yu P, Tagle DA, Xia J.
    Am J Med Genet; 1999 Oct 08; 86(4):305-11. PubMed ID: 10494083
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  • 4. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Oct 08; 17(1):57-63. PubMed ID: 16719278
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  • 5. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
    Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Genet Couns; 2007 Oct 08; 18(1):9-16. PubMed ID: 17515297
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  • 9. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
    Türköver BB, Sayar C, Toksoy G, Elçioğlu N.
    Turk J Pediatr; 2009 Oct 08; 51(2):174-9. PubMed ID: 19480332
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  • 10. 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 Oct 08; 46(4):419-21. PubMed ID: 16278518
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  • 12. Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
    Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D.
    Gene; 2012 Jul 01; 502(1):40-5. PubMed ID: 22537675
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  • 13. Partial trisomy 13q identified by sequential fluorescence in situ hybridization.
    Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B.
    Am J Med Genet; 1995 Jul 31; 58(1):50-3. PubMed ID: 7573156
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  • 14. Malformation syndrome of duplication 12q24.1 leads to qter.
    Melnyk AR, Weiss L, Van Dyke DL, Jarvi P.
    Am J Med Genet; 1981 Jul 31; 10(4):357-65. PubMed ID: 7332029
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  • 16. Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies.
    Ergun MA, Balci S, Konaç E, Kan D, Menevşe S, Bartsch O.
    Turk J Pediatr; 2004 Jul 31; 46(4):384-7. PubMed ID: 15641279
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  • 17. Duplication of distal 19q: clinical report and review.
    Boyd E, Grass FS, Parke JC, Knutson K, Stevenson RE.
    Am J Med Genet; 1992 Feb 01; 42(3):326-30. PubMed ID: 1536172
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  • 18. Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.
    Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N.
    Am J Med Genet; 2001 Dec 15; 104(4):319-22. PubMed ID: 11754068
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  • 19. Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).
    Petty EM, Gibson LH, Breg WR, Burns JP, Yang-Feng TL.
    Am J Med Genet; 1993 Mar 15; 45(6):770-3. PubMed ID: 8456860
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  • 20. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
    Akbas E, Polat S, Karakas-Celik S, Altintas ZM, Yildirim M, Yilgor E.
    Genet Couns; 2011 Mar 15; 22(4):417-23. PubMed ID: 22303803
    [Abstract] [Full Text] [Related]

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