title: Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.
abstract: We have evaluated a young woman with segmental spinal muscular atrophy, who has a deletion of a portion of the long arm of chromosome 18. She also has vitiligo and lichen sclerosis et atrophicus. She has neither the facial dysmorphism nor the mental deficit usually associated with the 18q- syndrome. Magnetic resonance imaging scan of her brain demonstrates high signal intensity consistent with abnormal myelination. Southern blot analysis of her DNA demonstrates that the deletion includes the gene for human myelin basic protein. Neither spinal muscular atrophy nor this patient's skin manifestations have been previously reported in association with 18q-.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia 19104-6146.
authors.forename: B J
authors.initials: BJ
authors.lastname: Weiss
authors.forename: J
authors.initials: J
authors.lastname: Kamholz
authors.forename: A
authors.initials: A
authors.lastname: Ritter
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: B
authors.initials: B
authors.lastname: Emanuel
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000235:genetics*; D004676:Myelin Basic Protein / Q000235:genetics; D012594:Scleroderma, Localized / Q000150:complications*; D014820:Vitiligo / Q000150:complications*
chemical_list: D004676:Myelin Basic Protein; D004247:DNA