Clinical and chromosome studies of three patients with Smith-Magenis syndrome

Dev Med Child Neurol. 1991 Apr;33(4):343-7. doi: 10.1111/j.1469-8749.1991.tb14885.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Attention Deficit Disorder with Hyperactivity / diagnosis
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17*
  • Facial Bones / abnormalities*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Middle Aged
  • Syndrome