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Journal Abstract Search

167 related items for PubMed ID: 12884434

  • 1. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
    Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.
    Am J Med Genet A; 2003 Aug 01; 120A(4):533-6. PubMed ID: 12884434
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  • 4. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
    Syrrou M, Borghgraef M, Fryns JP.
    Am J Med Genet; 2001 Dec 01; 104(3):199-203. PubMed ID: 11754044
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  • 5. Chromosome 20 long arm deletion in an elderly malformed man.
    Shabtai F, Ben-Sasson E, Arieli S, Grinblat J.
    J Med Genet; 1993 Feb 01; 30(2):171-3. PubMed ID: 8445626
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  • 7. 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
    Maaswinkel-Mooij PD, de Jong P, Beverstock GC.
    Clin Genet; 1993 Feb 01; 43(2):76-8. PubMed ID: 8448905
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  • 9. 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.
    Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H.
    Ann Genet; 1992 Feb 01; 35(4):234-6. PubMed ID: 1296522
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  • 11. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.
    Chen CP, Lin SP, Lin YH, Chern SR, Wu PS, Chen YN, Chen SW, Yang CW, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2016 Dec 01; 55(6):852-855. PubMed ID: 28040132
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  • 15. Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23).
    Dufke A, Mayrhofer H, Enders H, Kaiser P, Leipoldt M.
    Cytogenet Cell Genet; 2001 Dec 01; 93(3-4):168-70. PubMed ID: 11528107
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  • 16. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
    Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR.
    J Med Genet; 2007 Apr 01; 44(4):250-6. PubMed ID: 17172463
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  • 17. Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
    Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.
    Am J Med Genet A; 2006 Jun 01; 140(11):1219-22. PubMed ID: 16652358
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  • 18. Molecular and cytogenetic characterisation of a small interstitial de novo 20p13-->p12.3 deletion in a patient with severe growth deficit.
    Leprêtre F, Montpellier C, Delannoy V, Froguel P, Vasseur F.
    Cytogenet Cell Genet; 2001 Jun 01; 94(3-4):142-6. PubMed ID: 11856871
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  • 19. Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation.
    Mikelsaar RV, Varb K, Süvari A, Schinzel A.
    J Med Genet; 2001 Jan 01; 38(1):E2. PubMed ID: 11134241
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