Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation.
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.
Bureau
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Department of Obstetrics and Gynecology, Hôpital Saint-François d'Assise, Laval University, Quebec, Canada.
Fraser
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W
Fouquet
B
B
D000328:Adult; D000649:Amniocentesis; D001921:Brain / Q000002:abnormalities / Q000196:embryology; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D002899:Chromosomes, Human, Pair 9; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D014314:Trisomy; D016216:Ultrasonography, Prenatal