Bureau Y A, Fraser W, Fouquet B
Department of Obstetrics and Gynecology, Hôpital Saint-François d'Assise, Laval University, Quebec, Canada.
Prenat Diagn. 1993 Feb;13(2):79-85. doi: 10.1002/pd.1970130202.
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.
9三体综合征是一种罕见的染色体异常疾病，与多系统畸形的特定模式以及偶尔出现的中枢神经系统（CNS）畸形有关，最常见的是Dandy-Walker畸形。9三体嵌合体通常表现为较轻的异常。我们报告了我们认为是首例产前诊断为孤立性Dandy-Walker畸形且随后被发现患有9三体嵌合综合征的婴儿病例。
