A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

@article{Gillessenkaesbach1999APU,
  title={A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect},
  author={G Gillessen-kaesbach and Stephanie Demuth and Hannelore Thiele and Ursel Theile and Christina Lich and Bernhard Horsthemke},
  journal={European Journal of Human Genetics},
  year={1999},
  volume={7},
  pages={638-644}
}
The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS… CONTINUE READING

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