[Epilepsy in a child with ring chromosome 14]

Neurol Neurochir Pol. 1993 Jan-Feb;27(1):99-104.
[Article in Polish]

Abstract

A case of epilepsy in a child with ring chromosome 14 is presented. The typical features for the ring chromosome 14 syndrome in 5 years old girl i.e. psychomotor retardation, microcephaly, generalized hypotonia and some dysmorphism were found. Photoanthropometric method by Stengel-Rutkowski et al. for better estimate of dysmorphic pattern was used. It made possible to ascribe the features to partial deletion of the long arm segment of chromosome 14. Computer tomography revealed brain atrophy.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Brain / physiopathology
  • Brain Diseases / diagnosis
  • Brain Diseases / physiopathology
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 14
  • Epilepsy / genetics*
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / physiopathology
  • Karyotyping
  • Phenotype
  • Psychomotor Disorders / genetics*
  • Tomography, X-Ray Computed