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Journal Abstract Search

182 related items for PubMed ID: 9489799

  • 21. Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
    Kotzot D, Schinzel A.
    Eur J Hum Genet; 2000 Sep; 8(9):709-12. PubMed ID: 10980577
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  • 22. Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.
    Gerdes AM, Hansen LK, Brandrup F, Soegaard K, Christoffersen A, Rasmussen K.
    Pediatr Dermatol; 2006 Sep; 23(4):378-81. PubMed ID: 16918638
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  • 24. 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 Sep; 9(3):215-21. PubMed ID: 9777345
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  • 27. 47,X,idic(Y),inv dup(Y): a non-mosaic case of a phenotypically normal boy with two different Y isochromosomes and neocentromere formation.
    Pasantes JJ, Wimmer R, Knebel S, Münch C, Kelbova C, Junge A, Kieback P, Küpferling P, Schempp W.
    Cytogenet Genome Res; 2012 Sep; 136(2):157-62. PubMed ID: 22286088
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  • 28. Prenatal diagnosis of mosaic tetrasomy 8p.
    Le Bris MJ, Marcorelles P, Audrézet MP, Parent P, Heren P, Le Guern H, Herry A, Morel F, Collet M, Férec C, De Braekeleer M.
    Am J Med Genet A; 2003 Jul 01; 120A(1):44-8. PubMed ID: 12794691
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  • 29. Familial ring (19) chromosome mosaicism: case report and review.
    Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D.
    Am J Med Genet; 1996 Dec 18; 66(3):276-80. PubMed ID: 8985487
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  • 30. Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
    Reddy KS, Sulcova V, Schwartz S, Noble JE, Phillips J, Brasel JA, Huff K, Lin HJ.
    Am J Med Genet; 2000 May 01; 92(1):69-76. PubMed ID: 10797426
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  • 31. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.
    Leichtman LG, Zackowski JL, Storto PD, Newlin A.
    Am J Med Genet; 1996 Jun 14; 63(3):434-7. PubMed ID: 8737648
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  • 32. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
    Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G.
    Eur J Hum Genet; 1999 Jun 14; 7(4):421-6. PubMed ID: 10352932
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  • 33. Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.
    Lorda-Sánchez I, Villa A, Urioste M, Bernal E, Jaso E, García A, Martínez-Frías ML.
    Am J Med Genet; 1997 Feb 11; 68(4):481-4. PubMed ID: 9021026
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  • 34. Post-zygotic origin of isochromosome 12p.
    de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Prenat Diagn; 2004 Dec 15; 24(12):984-8. PubMed ID: 15614858
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  • 35. Prenatally detected paternal uniparental chromosome 13 isodisomy.
    Järvelä I, Savukoski M, Ammälä P, von Koskull H.
    Prenat Diagn; 1998 Nov 15; 18(11):1169-73. PubMed ID: 9854727
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  • 36. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.
    Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT.
    Am J Med Genet; 1998 Dec 04; 80(4):418-22. PubMed ID: 9856575
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  • 37. [A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH].
    Koseki N, Obara Y, Ookawa A, Katsumi M, Funato T, Kaku M.
    Rinsho Byori; 2001 Oct 04; 49(10):1045-8. PubMed ID: 11769470
    [Abstract] [Full Text] [Related]

  • 38. Dandy-Walker malformation in an infant with tetrasomy 9p.
    Cazorla Calleja MR, Verdú A, Félix V.
    Brain Dev; 2003 Apr 04; 25(3):220-3. PubMed ID: 12689705
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  • 39. Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
    Shehab MI, Mazen I, Bint S.
    Am J Med Genet A; 2011 Oct 04; 155A(10):2496-2500. PubMed ID: 21998854
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  • 40. A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.
    Bellil H, Herve B, Herzog E, Ayoubi JM, Vialard F, Poulain M.
    J Assist Reprod Genet; 2020 Mar 04; 37(3):573-577. PubMed ID: 31981038
    [Abstract] [Full Text] [Related]

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