Trisomy-18 mosaicism with features of Russel-Silver syndrome

Dev Med Child Neurol. 1975 Apr;17(2):220-4. doi: 10.1111/j.1469-8749.1975.tb03473.x.

Abstract

A child is described who presented at 16 months with developmental delay and clinical features of the Russell-Silver syndrome. Chromosome analysis revealed trisomy-18 mosaicism. Only one other similar case has been reported in the literature. It is recommended that chromosomal studies continue to be included in the clinical investigation of children with Russell-Silver syndrome.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Chromosomes, Human, 16-18*
  • Craniofacial Dysostosis / genetics*
  • Dermatoglyphics
  • Dwarfism / congenital*
  • Dwarfism / genetics
  • Humans
  • Infant
  • Karyotyping
  • Language Disorders / etiology
  • Male
  • Movement Disorders / etiology
  • Syndrome
  • Trisomy*