Journal article

Rett syndrome: Significant clinical overlap with Angelman syndrome but not with methylation status

C Ellaway, T Buchholz, A Smith, H Leonard, J Christodoulou

JOURNAL OF CHILD NEUROLOGY | DECKER PERIODICALS INC | Published : 1998

Abstract

Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance. Both conditions can be difficult to diagnose in girls early in their clinical course and can be difficult to distinguish from each other. Genomic imprinting is a known association in Angelman syndrome and previously has been suggested in Rett syndrome. Our aim was to evaluate the methylation status in a cohort of classical patients with Rett syndrome, using a methylation system for chromosome 15q11-13. Methylation analysis of chromosome 15 has no..

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