Genetic diagnosis of a fetus with Dandy-Walker syndrome

VernacularTitle: Dandy-Walker综合征胎儿的遗传学分析
Author: Yuqin LUO ¹ ; Yixi SUN ; Yeqing QIAN ; Min SHEN ; Liya WANG ; Fan JIN ; Minyue DONG
Author Information

1. Department of Reproductive Genetics, Women’s Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Publication Type:Journal Article
Keywords: Single nucleotide polymorphism array; Dandy-Walker syndrome; Prenatal diagnosis; Molecular cytogenetics
From: Chinese Journal of Medical Genetics 2020;37(1):8-11
CountryChina
Language:Chinese
Abstract: Objective:To explore the genetic basis for a fetus with Dandy-Walker malformation.
Methods:G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.
Results:SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation.
Conclusion:The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.