کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2813933 1569496 2013 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Neurological features and long-term follow-up in 15q11.2-13.1 duplication
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Neurological features and long-term follow-up in 15q11.2-13.1 duplication
چکیده انگلیسی

Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader–Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and the phenotype is not yet defined. Here we report two adult cases with a 15q11.2-13.1 duplication showing a complex and similar epileptic phenotype.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 56, Issue 11, November 2013, Pages 614–618
نویسندگان
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