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Journal of Medical Genetics 2003;40:72-73; doi:10.1136/jmg.40.1.72
Copyright © 2003 by the BMJ Publishing Group Ltd.
Journal of Medical Genetics 2003;40:72-73
© 2003 BMJ Publishing Group

LETTER TO JMG

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

A Vogels, G Matthijs, E Legius, K Devriendt, J-P Fryns

Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium

Correspondence to:
Correspondence to:
Professor J-P Fryns, Centre for Human Genetics, Herestraat 49, 3000 Leuven, Belgium;
Jean-Pierre.Fryns@med.kuleuven.ac.be

Keywords: chromosome 15; maternal uniparental disomy; psychosis; Prader-Willi syndrome

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]


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