Genetic analysis of two cases with Dandy-Walker deformed fetus.
- VernacularTitle:两例Dandy-Walker畸形胎儿的遗传学分析
- Author:
Juan YAO
1
;
Rong FANG
;
Xueping SHEN
;
Guosong SHEN
;
Su ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Deletion; Dandy-Walker Syndrome; diagnosis; genetics; Female; Humans; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2017;34(5):666-670
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).
METHODSThe fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.
RESULTSThe 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.
CONCLUSIONAlteration 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.
