Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

@article{Bonaglia2008DetailedPS,
  title={Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype},
  author={Maria Clara Bonaglia and Roberto Ciccone and Giorgio Gimelli and Stefania Gimelli and Susan Marelli and Joke B. G. M. Verheij and Roberto Giorda and Rita Grasso and Renato Borgatti and Filomena Pagone and Laura Rodr{\'i}guez and M L Martinez-frias and Conny M A van Ravenswaaij and Orsetta Zuffardi},
  journal={European Journal of Human Genetics},
  year={2008},
  volume={16},
  pages={1443-1449}
}
Most patients with an interstitial deletion of 6q16 have Prader–Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the chromosome rearrangement was detected by karyotype analysis, which provides an overview of the entire genome but has limited resolution. Here we describe a detailed clinical presentation of five patients, two of whom were previously reported, with overlapping interstitial 6q16 deletions and Prader–Willi… CONTINUE READING

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