产前诊断
丹迪-沃克综合征
胎儿
核型
生物
脑积水
小脑发育不全(非人类)
发育不良
医学
突变
作者
Juan Yao,Rong Fang,Xueping Shen,Guosong Shen,Su Zhang
出处
期刊:Chinese journal of medical genetics
日期:2017-10-10
卷期号:34 (5): 666-670
标识
DOI:10.3760/cma.j.issn.1003-9406.2017.05.010
摘要
Objective
To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).
Methods
The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.
Results
The parents of both fetuses showed a normal karyotype. One fetus has a 46, X, ? i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.
Conclusion
Alteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.
Key words:
Dandy-Walker syndrome; Chromosome; Single nucleotide polymorphism microarray; Prenatal diagnosis
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