Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion.
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.
Vialard
F
F
Department of Reproductive Biology, Cytogenetics, Obstetrics and Gynaecology, CHI Poissy-Saint Germain, France. fvialard@hotmail.com
Robyr
R
R
Hillion
Y
Y
Molina Gomes
D
D
Selva
J
J
Ville
Y
Y
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