Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome
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普瑞德威利综合征中 15 号染色体母体单亲二体性和精神病
DOI：
10.1136/jmg.40.1.72
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发表时间：
2003
影响因子：
4
通讯作者：
J. Fryns
中科院分区：
文献类型：
--
作者：
A. Vogels;G. Matthijs;E. Legius;K. Devriendt;J. Fryns
在2002年1月16日出版的《柳叶刀》杂志上，Boer等报道了Prader-Willi综合征（PWS）中的精神疾病与15号染色体母体单亲二体有关。在这里，我们报告了在鲁汶人类遗传学中心进行的一项为期10年的随访研究的结果，证实了先前研究的结果。
In the 16 January 2002 issue of the Lancet , Boer et al 1 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.
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 …