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Journal Abstract Search

237 related items for PubMed ID: 18925617

  • 1. Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.
    Ghosh A, Higgins L, Larkins SA, Miller C, Ostojic N, Martin WL, Kilby MD.
    Prenat Diagn; 2008 Nov; 28(11):1068-71. PubMed ID: 18925617
    [No Abstract] [Full Text] [Related]

  • 2. Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
    Palka C, Alfonsi M, Morizio E, Soranno A, La Rovere D, Matarrelli B, Rullo AL, Zori R, Chiarelli F, Calabrese G.
    Eur J Med Genet; 2011 Nov; 54(3):333-6. PubMed ID: 21354345
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  • 3. Dandy-Walker malformation in a male fetus with mosaic 45,X/46,X,del(Y)(q11).
    Witters I, Vandecruys H, Devlieger R, Fryns JP.
    Genet Couns; 2008 Nov; 19(4):439-41. PubMed ID: 19239090
    [No Abstract] [Full Text] [Related]

  • 4. Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).
    Witters I, Balikova I, Cannie M, Devriendt K, De Catte L, Fryns JP.
    Genet Couns; 2008 Nov; 19(4):443-6. PubMed ID: 19239091
    [No Abstract] [Full Text] [Related]

  • 5. Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).
    Bukvic N, Cesarano C, Ceccarini C, Bruno M, Lipsi MR, Gallicchio MG, Carboni MA, Valente L, Cotoia G, Antonetti R.
    Gene; 2013 Jan 15; 513(1):111-7. PubMed ID: 23124038
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  • 6. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B, Usinskiené R, Kostyk E, Rybałko A, Stasiewicz-Jarocka B, Krzykwa B, Pieńkowska-Grela B, Kucinskas V, Michalova K, Midro AT.
    Ann Genet; 2004 Jan 15; 47(1):11-28. PubMed ID: 15050871
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  • 7. Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review.
    Chien SC, Chen CP, Lin CC, Huang LC, Hsieh CT, Tsai FJ.
    Taiwan J Obstet Gynecol; 2009 Sep 15; 48(3):292-5. PubMed ID: 19797023
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular studies with multiplex STR analysis.
    Hwa HL, Ko TM, Chang YY, Huang CH, Su YN, Tseng LH, Hsieh FJ.
    Prenat Diagn; 2004 Feb 15; 24(2):121-4. PubMed ID: 14974120
    [Abstract] [Full Text] [Related]

  • 9. Natural history of prenatally diagnosed 46,X,isodicentric Y.
    Willis MJ, Bird LM, Dell'aquilla M, Jones MC.
    Prenat Diagn; 2006 Feb 15; 26(2):134-7. PubMed ID: 16463293
    [Abstract] [Full Text] [Related]

  • 10. Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
    Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M.
    Prenat Diagn; 2006 Apr 15; 26(4):324-9. PubMed ID: 16521154
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  • 12. Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.
    Nataf V, Senat MV, Albert M, Bidat L, de Mazancourt P, Roume J, Allard L, Le Tessier D, Ville Y, Selva J.
    Prenat Diagn; 2002 Aug 15; 22(8):675-80. PubMed ID: 12210575
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  • 14. Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.
    Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largillière C, Garel C, Gressens P, Bucourt M, Cedrin-Durnerin I, Lachassinne E, Roumegoux C, Uzan M, Hugues JN, Wolf JP, Benzacken B.
    Prenat Diagn; 2007 Mar 15; 27(3):279-84. PubMed ID: 17269127
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