Department of Reproductive and Genetics, Hebei General Hospital, Hebei Province, No. 348 West Heping Road, Shijiazhuang 050051, People's Republic of China.
J Genet. 2021;100.
Dandy-Walker malformation (DWM) is characterized by complete or partial agenesis of the cerebellar vermis, cyatic dilatation of the forth ventricle, and enlarged posterior fossa. However, the mechanism is still not completely understood up to now. In this study, we reported a rare case that a foetus with DWM showed partial trisomy 12p and distal 15q deletion. Karyotype analysis and chromosomal microarray analysis (CMA) were not always concordant with each other, and it is suggested that they should be performed for prenatal genetic diagnosis together. DWM is a rare central nervous system malformation, reported in 1/25-30,000 live births, characterized by complete or partial agenesis of the cerebellar vermis, cyatic dilatation of the forth ventricle, and enlarged posterior fossa (Kumar 2001; Klein 2003; Agrawal 2016). The neurological development of children with DWM may range from normal to severely retarded, and cause variable clinical feature. Although several efforts have been made to explore its pathogenesis, however, it is still not completely understood. During the past decade, some genetic loci, microdeletion or duplication have been reported to be associated with DWM, such as 9p trisomy, partial deletions of the long arm of chromosome 13, genes and (von Kaisenberg 2000; McCormack 2003; Grinberg 2004). In the present study, we describe a prenatal diagnosis case that a foetus with DWM on ultrasound scanning accepted genetic testing, and it revealed a microduplication of 12p13.33p11.1 and microdeletion of 15q11.2 in 750K single nucleotide polymorphism (SNP) array, while it showed 46,XX,der(8)(8pter→8q24::12p10→12qter),i(12)(p10) in karyotyping.
Dandy-Walker 畸形（DWM）的特征为小脑蚓部完全或部分发育不全、第四脑室扩张和后颅窝增大。然而，其发病机制至今尚未完全阐明。本研究报道了一例罕见病例，胎儿患有 DWM 并伴有 12p 部分三体和 15q 远端缺失。核型分析和染色体微阵列分析（CMA）并不总是一致的，建议同时进行这两种检查以进行产前遗传学诊断。DWM 是一种罕见的中枢神经系统畸形，发病率为 1/25000-30000 活产儿，其特征为小脑蚓部完全或部分发育不全、第四脑室扩张和后颅窝增大（Kumar 1991；Klein 2003；Agrawal 2016）。DWM 患儿的神经发育可能从正常到严重迟缓不等，并导致不同的临床特征。尽管已经进行了一些研究来探索其发病机制，但仍未完全阐明。在过去的十年中，已经报道了一些遗传位点、微缺失或重复与 DWM 相关，例如 9p 三体、13 号染色体长臂部分缺失、和 基因（von Kaisenberg 2000；McCormack 2003；Grinberg 2004）。本研究描述了一例产前超声检查发现 DWM 的胎儿接受了基因检测，结果显示其在 750K SNP 芯片上存在 12p13.33p11.1 微重复和 15q11.2 微缺失，而核型分析显示其存在 46,XX,der(8)(8pter→8q24::12p10→12qter),i(12)(p10)。
