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Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion
Author(s) -
Vialard F.,
Robyr R.,
Hillion Y.,
Gomes D. Molina,
Selva J.,
Ville Y.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1130
Subject(s) - agenesis of the corpus callosum , hypotonia , dandy–walker syndrome , agenesis , corpus callosum , corpus callosum agenesis , medicine , karyotype , breakpoint , fetus , renal agenesis , anatomy , pediatrics , pathology , chromosome , biology , genetics , pregnancy , hydrocephalus , surgery , gene , kidney
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. Copyright © 2005 John Wiley & Sons, Ltd.