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Case Reports
. 2017 Oct 10;34(5):666-670.
doi: 10.3760/cma.j.issn.1003-9406.2017.05.010.

[Genetic analysis of two cases with Dandy-Walker deformed fetus]

[Article in Chinese]
Juan Yao  1 , Rong Fang, Xueping Shen, Guosong Shen, Su Zhang
Affiliations
Case Reports

[Genetic analysis of two cases with Dandy-Walker deformed fetus]

[Article in Chinese]
Juan Yao et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

Abstract

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.

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