title: Clinical and chromosome studies of three patients with Smith-Magenis syndrome.
abstract: The authors report three patients with Smith-Magenis syndrome; only 21 patients with this syndrome have been described previously in the literature. The syndrome is related to a deletion of chromosome 17p11 x 2, and differs from Miller-Dieker syndrome on clinical criteria and in that the latter is related to a deletion of 17p13 x 3.
authors.affiliation: Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
authors.forename: J F
authors.initials: JF
authors.lastname: de Rijk-van Andel
authors.forename: C E
authors.initials: CE
authors.lastname: Catsman-Berrevoets
authors.forename: J O
authors.initials: JO
authors.lastname: van Hemel
authors.forename: A J
authors.initials: AJ
authors.lastname: Hamers
mesh_terms: D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D013577:Syndrome