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1150 related items for PubMed ID: 16053907

  • 1. 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; 48(2):159-66. PubMed ID: 16053907
    [Abstract] [Full Text] [Related]

  • 2. Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).
    Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B.
    Ann Hum Genet; 2006 Nov; 70(Pt 6):958-64. PubMed ID: 17044870
    [Abstract] [Full Text] [Related]

  • 3. A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
    Tatar A, Oztas S, Yakut T, Ors R.
    Genet Couns; 2005 Nov; 16(2):173-7. PubMed ID: 16080298
    [Abstract] [Full Text] [Related]

  • 4. 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 Nov; 49(5):402-13. PubMed ID: 16488200
    [Abstract] [Full Text] [Related]

  • 5. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
    Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P.
    Hum Genet; 2002 Sep; 111(3):290-6. PubMed ID: 12215843
    [Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia.
    Chen CP, Chern SR, Wang TH, Hsueh DW, Lee CC, Town DD, Wang W, Ko TM.
    Prenat Diagn; 2005 Jun; 25(6):492-6. PubMed ID: 15966044
    [Abstract] [Full Text] [Related]

  • 7. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 Jun; 50(3):224-32. PubMed ID: 17329177
    [Abstract] [Full Text] [Related]

  • 8. Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.
    Zaki MS, Kamel AA, El-Ruby M.
    Genet Couns; 2005 Jun; 16(4):393-402. PubMed ID: 16440882
    [Abstract] [Full Text] [Related]

  • 9. Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH.
    Drut RM, Drut R.
    Am J Med Genet; 1996 Mar 15; 62(2):145-9. PubMed ID: 8882394
    [Abstract] [Full Text] [Related]

  • 10. Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
    Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L.
    J Med Genet; 2006 Aug 15; 43(8):e39. PubMed ID: 16882733
    [Abstract] [Full Text] [Related]

  • 11. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
    McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH, Pearson PL, Antonarakis SE.
    Am J Med Genet; 1993 Jul 01; 46(6):647-51. PubMed ID: 8362906
    [Abstract] [Full Text] [Related]

  • 12. A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.
    Matheisel A, Babinska M, Wierzba J, Wozniak A, Nedoszytko B, Balcerska A, Limon J.
    Genet Couns; 2000 Jul 01; 11(3):267-71. PubMed ID: 11043435
    [Abstract] [Full Text] [Related]

  • 13. 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 Jul 01; 16(2):129-38. PubMed ID: 16080292
    [Abstract] [Full Text] [Related]

  • 14. Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.
    Hegmann KM, Spikes AS, Orr-Urtreger A, Shaffer LG.
    Am J Med Genet; 1996 Jan 02; 61(1):10-5. PubMed ID: 8741910
    [Abstract] [Full Text] [Related]

  • 15. Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).
    Petit P, Devriendt K, Vermeesch JR, Meireleire J, Fryns JP.
    Genet Couns; 1998 Jan 02; 9(3):215-21. PubMed ID: 9777345
    [Abstract] [Full Text] [Related]

  • 16. Two unbalanced segregation products due to a maternal t(7;16)inv(16).
    Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM.
    Prenat Diagn; 2001 Jul 02; 21(7):550-2. PubMed ID: 11494289
    [Abstract] [Full Text] [Related]

  • 17. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.
    Lacbawan FL, White BJ, Anguiano A, Rigdon DT, Ball KD, Bromage GB, Yang X, DiFazio MP, Levin SW.
    Am J Med Genet; 1999 Nov 19; 87(2):139-42. PubMed ID: 10533028
    [Abstract] [Full Text] [Related]

  • 18. 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 19; 16(4):231-9. PubMed ID: 17786114
    [Abstract] [Full Text] [Related]

  • 19. Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
    Fryns JP, Kleczkowska A, Devriendt K, Devliegher H, Van den Berghe H.
    Genet Couns; 1993 Oct 19; 4(1):37-41. PubMed ID: 8471219
    [Abstract] [Full Text] [Related]

  • 20. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
    Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC, Seuánez HN, Vargas FR.
    Eur J Med Genet; 2008 Oct 19; 51(6):588-97. PubMed ID: 18674646
    [Abstract] [Full Text] [Related]

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