Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. [electronic resource]
Producer: 19890630Description: 333-8 p. digitalISSN:- 0148-7299
- Adult
- Ataxia -- genetics
- Blotting, Southern
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- DNA -- genetics
- Female
- Foramen Magnum -- pathology
- Head -- abnormalities
- Hearing Loss, Sensorineural -- genetics
- Humans
- Karyotyping
- Pedigree
- Speech Disorders -- genetics
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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