Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation |
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| Authors: | Y-A Bureau Dr W Fraser B Fouquet |
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| Institution: | 1. Department of Obstetrics and Gynecology, Hopital Saint-François d'Assise, Laval University, Quebec (Quebec), Canada;2. Department of Pathology, Hopital Saint-François d'Assise, Laval University, Quebec (Quebec), Canada |
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| Abstract: | Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome. |
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| Keywords: | Trisomy 9 mosaicism |
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