Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals

@article{Granzow2000MultiplexFT,
  title={Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals},
  author={Martin Granzow and Susanne Popp and Monika Keller and Heidi Holtgreve-Grez and Michaela Brough and Brigitte Schoell and Inge Rauterberg-Ruland and H. -D. Hager and Gholamali Tariverdian and Anna Jauch},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={51-57}
}
Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbalanced… CONTINUE READING

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