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Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

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Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after MspI digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.

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  • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13. Addendum (1984) Anal Biochem 137: 266–267

    Google Scholar 

  • Kirkels VGH, Hustinx TWJ, Scheres JMJC (1980) Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18: 456–461

    Google Scholar 

  • Martin RH, Balkan W, Burns K, Rademaker AW, Lin CC, Rudd NL (1983) The chromosome constitution of 1000 human spermatozoa. Hum Genet 63:305–309

    Google Scholar 

  • Millington-Ward A, Wassenaar ALM, Pearson PL (1985) Restriction fragment length polymorphic probes in the analysis of Down's syndrome. (8th International Congress on Human Gene Mapping) Cytogenet Cell Genet 40:699

    Google Scholar 

  • Münke M, Kraus J, Watkins P, Tanzi R, Gusella J, Millington-Ward A, Watson M, Francke U (1985) Homocystinuria gene on chromosome 21 mapped with cloned cystathionine beta-synthase probe and in situ hybridization of other chromosome 21 probes. (8th International Congress on Human Gene Mapping) Cytogenet Cell Genet 40:706–707

    Google Scholar 

  • Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

    Google Scholar 

  • Wahl GM, Stern M, Starck GR (1979) Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethylpaper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci USA 76:3683–3687

    Google Scholar 

  • Watkins PC, Tanzi RE, Gibbons KT, Tricoli JV, Landes G, Eddy R, Shows TB, Gusella JF (1985) Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res 13:6075–6088

    Google Scholar 

  • Watson DK, McWilliams-Smith MJ, Kozak C, Reeves R, Gearhart J, Nunn MF, Nash W, Fowle JR, Duesberg P, Papas TS, O'Brien SJ (1986) Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans. Proc Natl Acad Sci USA 83:1792–1796

    Google Scholar 

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Créau-Goldberg, N., Gegonne, A., Delabar, J. et al. Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet 76, 396–398 (1987).

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