Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome

@article{Stathopulu2003TerminalDO,
  title={Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan–Fryns syndrome},
  author={Eleni Stathopulu and Caroline M. Ogilvie and Frances A. Flinter},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={119A}
}
We report a young man with phenotypical features suggestive of Lujan–Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a ‘breathy, raspy’ voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan–Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for… 

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