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Journal Abstract Search

528 related items for PubMed ID: 11528107

  • 1. 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; 93(3-4):168-70. PubMed ID: 11528107
    [Abstract] [Full Text] [Related]

  • 2. Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.
    Petković I, de Capoa A, Giancotti P, Barisić I.
    Clin Genet; 1996 Dec; 50(6):515-9. PubMed ID: 9147886
    [Abstract] [Full Text] [Related]

  • 3. Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation.
    Armstrong SJ, Goldman AS, Speed RM, Hultén MA.
    Am J Hum Genet; 2000 Sep; 67(3):601-9. PubMed ID: 10936106
    [Abstract] [Full Text] [Related]

  • 4. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.
    Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.
    Genet Couns; 2010 Sep; 21(1):99-108. PubMed ID: 20420036
    [Abstract] [Full Text] [Related]

  • 5. Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
    Kosaki R, Migita O, Takahashi T, Kosaki K.
    Am J Med Genet A; 2009 Feb 15; 149A(4):702-5. PubMed ID: 19288551
    [Abstract] [Full Text] [Related]

  • 6. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
    Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G.
    Am J Med Genet A; 2021 Oct 15; 185(10):3057-3061. PubMed ID: 34043868
    [Abstract] [Full Text] [Related]

  • 7. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
    Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H.
    J Med Genet; 1996 Nov 15; 33(11):952-6. PubMed ID: 8950677
    [Abstract] [Full Text] [Related]

  • 8. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S, Aypar E, Beksaç MS, Bartsch O.
    Genet Couns; 2009 Nov 15; 20(2):125-32. PubMed ID: 19650409
    [Abstract] [Full Text] [Related]

  • 9. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
    Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M.
    Am J Med Genet; 2002 Sep 01; 111(4):405-8. PubMed ID: 12210300
    [Abstract] [Full Text] [Related]

  • 10. Emanuel syndrome due to unusual segregation of paternal origin.
    Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO.
    Genet Couns; 2012 Sep 01; 23(2):319-28. PubMed ID: 22876593
    [Abstract] [Full Text] [Related]

  • 11. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].
    Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A.
    Cytogenet Genome Res; 2003 Sep 01; 103(1-2):17-23. PubMed ID: 15004458
    [Abstract] [Full Text] [Related]

  • 12. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.
    Zackai EH, Emanuel BS.
    Am J Med Genet; 1980 Sep 01; 7(4):507-21. PubMed ID: 7211960
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis.
    Prontera P, Buldrini B, Aiello V, Gruppioni R, Bonfatti A, Venti G, Ferlini A, Sensi A, Calzolari E, Donti E.
    Prenat Diagn; 2006 Jun 01; 26(6):571-6. PubMed ID: 16683276
    [Abstract] [Full Text] [Related]

  • 15. Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
    Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.
    J Appl Genet; 2005 Jun 01; 46(4):419-21. PubMed ID: 16278518
    [Abstract] [Full Text] [Related]

  • 16. Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).
    Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D.
    Am J Med Genet A; 2004 Feb 15; 125A(1):86-91. PubMed ID: 14755472
    [Abstract] [Full Text] [Related]

  • 17. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
    J Med Genet; 2001 Dec 15; 38(12):885-8. PubMed ID: 11768396
    [No Abstract] [Full Text] [Related]

  • 18. Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.
    Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H.
    Hum Genet; 1986 Jan 15; 72(1):1-8. PubMed ID: 3943858
    [Abstract] [Full Text] [Related]

  • 19. Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.
    Summitt RL, Tharapel AT, Wilroy RS.
    Eur J Pediatr; 1977 Jul 01; 125(3):169-74. PubMed ID: 885143
    [Abstract] [Full Text] [Related]

  • 20. Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
    Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O.
    Am J Med Genet A; 2003 Mar 15; 117A(3):236-44. PubMed ID: 12599186
    [Abstract] [Full Text] [Related]

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