Clinical and chromosome studies of three patients with Smith-Magenis syndrome.
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.
de Rijk-van Andel
J F
JF
Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
Catsman-Berrevoets
C E
CE
van Hemel
J O
JO
Hamers
A J
AJ
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