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Clinical and chromosome studies of three patients with Smith-Magenis syndrome
J F de Rijk-van Andel1, C E Catsman-Berrevoets, J O van Hemel
1Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
Developmental Medicine and Child Neurology
|April 1, 1991
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.