A somatic origin of homologous Robertsonian translocations and isochromosomes.

@article{Robinson1994ASO,
  title={A somatic origin of homologous Robertsonian translocations and isochromosomes.},
  author={Wendy P Robinson and Florence Bernasconi and S. Teksoy Başaran and Memune Y{\"u}ksel-Apak and Giovanni Neri and Françoise Serville and Petr Bal{\'i}{\vc}ek and Radovan Haluza and Leila Montenegro Silvei Farah and G{\"u}ven L{\"u}leci},
  journal={American journal of human genetics},
  year={1994},
  volume={54 2},
  pages={
          290-302
        }
}
One t(14q14q), three t(15q15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases had results indicative of an isochromosome: one t(14q14q) case with mild mental retardation and maternal uniparental disomy (UPD) for chromosome 14, one t(15q15q) case with the Prader-Willi syndrome and UPD(15), a phenotypically normal carrier of t… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 45 CITATIONS

Similar Papers

Loading similar papers…