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PUBMED FOR HANDHELDS

Journal Abstract Search


483 related items for PubMed ID: 16488200

  • 1. 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; 49(5):402-13. PubMed ID: 16488200
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  • 2. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.
    Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
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  • 3. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.
    Eur J Med Genet; 2005 Oct; 48(2):159-66. PubMed ID: 16053907
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  • 4. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Oct; 16(2):129-38. PubMed ID: 16080292
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  • 5. Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.
    Lapière JC, Verloes A, Herens C, Delfortrie J, Van Maldergem L, Gillerot Y, Koulischer L.
    Genet Couns; 1992 Oct; 3(3):155-9. PubMed ID: 1388935
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  • 6. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.
    Eur J Med Genet; 2006 Oct; 49(6):505-10. PubMed ID: 16905374
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  • 9. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
    Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR.
    Hum Mutat; 2005 Nov; 26(5):477-86. PubMed ID: 16170807
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  • 12. Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.
    Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A.
    Eur J Med Genet; 2005 Nov; 48(2):167-74. PubMed ID: 16053908
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  • 16. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Nov; 42(4):215-20. PubMed ID: 10674161
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  • 18. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
    Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A.
    Am J Med Genet; 2000 May 15; 92(2):101-6. PubMed ID: 10797432
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  • 19. Partial monosomy of 10p and duplication of another chromosome in two patients.
    Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, Seki M, Sato Y, Ogawa S, Takita J, Kitanaka S, Oka A.
    Pediatr Int; 2017 Jan 15; 59(1):99-102. PubMed ID: 28102624
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