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Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome
  1. A Vogels,
  2. G Matthijs,
  3. E Legius,
  4. K Devriendt,
  5. J-P Fryns
  1. Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium
  1. Correspondence to:
 Professor J-P Fryns, Centre for Human Genetics, Herestraat 49, 3000 Leuven, Belgium; 
 Jean-Pierre.Fryns{at}med.kuleuven.ac.be

https://doi.org/10.1136/jmg.40.1.72

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    In the 16 January 2002 issue of the Lancet, Boer et al1 reported that psychotic illness in Prader-Willi syndrome (PWS) is associated with chromosome 15 maternal uniparental disomy. Here, we report the findings of a 10 year follow up study at the Centre for Human Genetics in Leuven, confirming the results of the previous study.

    MATERIALS AND METHODS

    Fifty-nine PWS patients with the diagnosis confirmed by DNA methylation testing had regular and long term follow up at the Centre for Human Genetics in Leuven. For more then 10 years, these patients have been seen at least once a year by a clinical geneticist and a psychiatrist skilled in the assessment of people with learning disabilities. Detailed information on clinical and psychiatric history was recorded in the medical files for all patients. For the past two years all patients were offered a DNA methylation test using probes PW71B and KB17 and FISH analysis for 15q11-12 deletion detection. If FISH analysis …

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