1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-11-15-a 10.15844/pedneurbriefs-11-2-10 Developmental and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Angelman Syndrome: Molecular Cytogenetic Studies http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 02 1997 01 05 2016 11 2 15 15 Copyright: © 1997 The Author(s) 1997 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Angelman syndrome assessed by neurological and molecular cytogenetic investigations

Clinical, neurological, and molecular genetic studies of 22 patients with diagnostic features of Angelman syndrome (AS) are reported from National Taiwan University Hospital, Taipei.

 Angelman Syndrome Fluorescence in Situ Hybridization Ataxic Cerebral Palsy

Clinical, neurological, and molecular genetic studies of 22 patients with diagnostic features of Angelman syndrome (AS) are reported from National Taiwan University Hospital, Taipei. A deletion of region 15qll-13 was identified cytogenetically in 11 cases by high-resolution technique. Four cases were confirmed by fluorescence in situ hybridization (FISH). The remaining 7 cases had no deletions over 15qll-13. Clinical features of AS were obvious after 2 years of age. During infancy AS may be mistaken for Rett syndrome, ataxic cerebral palsy, Prader-Willi syndrome, or infantile autism. [1]

COMMENT. Seizures occur in 80% of cases of Angelman syndrome, usually by 2 years of age, and Boyd and colleagues, Great Ormond Street Hospital, London, have described characteristic EEG findings that are included among diagnostic criteria for AS. In the above report, EEG findings were sometimes absent at an early age, and cytogenetic confirmation of the diagnosis was stressed.

Hou J-W Wang P-J Wang T-R Angelman syndrome assessed by neurological and molecular cytogenetic investigations Pediatr Neurol 1997 Jan 16 1 17 22 10.1016/S0887-8994(96)00264-0 9044396