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Journal Abstract Search

152 related items for PubMed ID: 1296522

  • 1. 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; 35(4):234-6. PubMed ID: 1296522
    [Abstract] [Full Text] [Related]

  • 2. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:).
    Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME.
    Am J Med Genet; 1982 May; 12(1):103-7. PubMed ID: 7091193
    [No Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].
    Turleau C, Rethoré MO, Junien C, Lejeune J, de Grouchy J.
    Ann Genet; 1979 Dec 01; 22(3):178-81. PubMed ID: 316677
    [Abstract] [Full Text] [Related]

  • 5. Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
    Schwartz S, Meekins J, Panny SR, Sun CC, Cohen MM.
    Am J Med Genet; 1983 May 01; 15(1):141-4. PubMed ID: 6859113
    [Abstract] [Full Text] [Related]

  • 6. 7q deletion syndrome (7q32 leads to 7qter).
    Harris EL, Wappner RS, Palmer CG, Hall B, Dinno N, Seashore MR, Breg WR.
    Clin Genet; 1977 Oct 01; 12(4):233-8. PubMed ID: 912940
    [Abstract] [Full Text] [Related]

  • 7. Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant.
    Gillar PJ, Kaye CI, Ryan SG, Moore CM.
    Am J Med Genet; 1992 Sep 15; 44(2):138-41. PubMed ID: 1456281
    [Abstract] [Full Text] [Related]

  • 8. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].
    Wilson MG, Towner JW, Forsman I, Siris E.
    Am J Med Genet; 1979 Sep 15; 3(2):155-74. PubMed ID: 474629
    [Abstract] [Full Text] [Related]

  • 9. Chromosomal mosaicism limited to fibroblasts and MCA/MR syndrome with fetal hypokinesia of central nervous origin.
    Fryns JP, Legius E, Van den Berghe H.
    Ann Genet; 1994 Sep 15; 37(2):94. PubMed ID: 7985987
    [No Abstract] [Full Text] [Related]

  • 10. Direct transmission of the 18q- syndrome from mother to daughter.
    Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W.
    Genet Couns; 2006 Sep 15; 17(2):185-9. PubMed ID: 16970036
    [Abstract] [Full Text] [Related]

  • 11. Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
    Lopez-Rangel E, Hrynchak M, Friedman JM.
    Am J Med Genet; 1993 Sep 01; 47(3):326-9. PubMed ID: 8135275
    [Abstract] [Full Text] [Related]

  • 12. Two female siblings with a previously unreported MCA/MR syndrome: pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles.
    Yüksel A, Seven M, Deviren A, Söylemez MA, Hacihanefioğlu S, Ulutin T, Cenani A.
    Genet Couns; 1999 Sep 01; 10(3):265-9. PubMed ID: 10546098
    [Abstract] [Full Text] [Related]

  • 13. Langer-Giedion syndrome with interstitial 8q-deletion.
    Zabel BU, Baumann WA.
    Am J Med Genet; 1982 Mar 01; 11(3):353-8. PubMed ID: 7081298
    [Abstract] [Full Text] [Related]

  • 14. A mildly retarded woman with 46,XX/47,XX, + 18 mosaicism.
    Bensen JT, Steele MW.
    Am J Med Genet; 1985 Oct 01; 22(2):343-6. PubMed ID: 4050867
    [Abstract] [Full Text] [Related]

  • 15. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
    Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen MM.
    Am J Med Genet; 1996 Apr 24; 62(4):372-5. PubMed ID: 8723067
    [Abstract] [Full Text] [Related]

  • 16. Trisomy 9 mosaicism in a girl with multiple malformations.
    Diaz-Mares L, Molina B, Carnevale A.
    Ann Genet; 1990 Apr 24; 33(3):165-8. PubMed ID: 2288462
    [Abstract] [Full Text] [Related]

  • 17. MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.
    Wilson GN, Vekemans MJ, Kaplan P.
    Am J Med Genet; 1988 Aug 24; 30(4):953-61. PubMed ID: 3055989
    [Abstract] [Full Text] [Related]

  • 18. Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
    van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC.
    Genet Couns; 1992 Aug 24; 3(2):83-9. PubMed ID: 1642815
    [Abstract] [Full Text] [Related]

  • 19. Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.
    Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H.
    Ann Genet; 1987 Aug 24; 30(3):186-8. PubMed ID: 3499858
    [Abstract] [Full Text] [Related]

  • 20. Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.
    Fujimoto A, Lin MS, Korula SR, Wilson MG.
    Am J Med Genet; 1985 Oct 24; 22(2):333-42. PubMed ID: 4050866
    [Abstract] [Full Text] [Related]

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