title: Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion.
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.
authors.affiliation: Department of Reproductive Biology, Cytogenetics, Obstetrics and Gynaecology, CHI Poissy-Saint Germain, France. fvialard@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Vialard
authors.forename: R
authors.initials: R
authors.lastname: Robyr
authors.forename: Y
authors.initials: Y
authors.lastname: Hillion
authors.forename: D
authors.initials: D
authors.lastname: Molina Gomes
authors.forename: J
authors.initials: J
authors.lastname: Selva
authors.forename: Y
authors.initials: Y
authors.lastname: Ville
mesh_terms: D000025:Abortion, Eugenic; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics* / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D011247:Pregnancy