Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion

Prenat Diagn. 2005 Apr;25(4):311-3. doi: 10.1002/pd.1130.

Abstract

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic
  • Adolescent
  • Agenesis of Corpus Callosum*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Cri-du-Chat Syndrome / genetics*
  • Cri-du-Chat Syndrome / pathology
  • Dandy-Walker Syndrome / genetics*
  • Dandy-Walker Syndrome / pathology
  • Female
  • Humans
  • Pregnancy