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  • Title: Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion.
    Author: Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y.
    Journal: Prenat Diagn; 2005 Apr; 25(4):311-3. PubMed ID: 15849798.
    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.
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