A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

@article{Maarel1999AND,
  title={A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)},
  author={S. M. van der Maarel and G. Deidda and R. Lemmers and E. Bakker and M. V. D. van der Wielen and L. Sandkuijl and J. Hewitt and G. Padberg and R. Frants},
  journal={Journal of Medical Genetics},
  year={1999},
  volume={36},
  pages={823 - 828}
}
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridises to a highly homologous repeat array locus on chromosome 10q26. Second, although aBlnI polymorphism allows discrimination between the repeat units on chromosomes 4 and 10 and greatly facilitates… Expand
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