Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

Hum Genet. 1982;61(4):364-8. doi: 10.1007/BF00276602.


Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable X-linked dominant trait with male lethality. All features of this syndrome were seen in a girl with a de novo balanced X/3 translocation (46,X,t(X;3)(p22;q12)). It is hypothesized that the clinical picture is the consequence of chromosome breakage within the Aicardi locus. Then, unusual X-inactivation patterns in blood and fibroblasts of this patient can be explained by somatic selection against cells with the Aicardi phenotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum*
  • Child, Preschool
  • Chromosomes, Human, 1-3 / ultrastructure
  • Dosage Compensation, Genetic
  • Eye Abnormalities
  • Female
  • Fibroblasts
  • Humans
  • Karyotyping
  • Sex Chromosome Aberrations
  • Skeleton / abnormalities
  • Syndrome
  • Translocation, Genetic
  • X Chromosome