title: Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.
abstract: We report on a 4-year-old girl with Angelman syndrome who has an apparent de-novo del(15) (q11q13) originating from a maternally derived chromosome. Her mother had severe brachycephaly, sensorineural hearing loss, speech impediment, and mild ataxia. CT brain scans showed an enlarged foramen magnum in the mother and daughter but magnetic resonance imaging (MRI) showed no brainstem abnormality in either. This family demonstrates that some Angelman syndrome cases may be dominantly transmitted with variable expression and associated with abnormal or cytogenetically apparently normal chromosome 15.
authors.affiliation: Raymond C. Philips Research and Education Unit, Department of Pediatrics, University of Florida, Gainesville.
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
authors.forename: J E
authors.initials: JE
authors.lastname: Hendrickson
authors.forename: E S
authors.initials: ES
authors.lastname: Cantú
authors.forename: T A
authors.initials: TA
authors.lastname: Donlon
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics*; D015139:Blotting, Southern; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics; D005260:Female; D005539:Foramen Magnum / Q000473:pathology*; D006257:Head / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome
chemical_list: D004247:DNA