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

Department of Reproductive Biology, Cytogenetics, Obstetrics and Gynaecology, CHI Poissy-Saint Germain, France. fvialard@hotmail.com

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.

PMID: 15849798 [PubMed - indexed for MEDLINE]