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[丹迪-沃克综合征胎儿的基因诊断]

[Genetic diagnosis of a fetus with Dandy-Walker syndrome].

作者信息

Luo Yuqin, Sun Yixi, Qian Yeqing, Shen Min, Wang Liya, Jin Fan, Dong Minyue

机构信息

Department of Reproductive Genetics, Women's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):8-11. doi: 10.3760/cma.j.issn.1003-9406.2020.01.003.

DOI:10.3760/cma.j.issn.1003-9406.2020.01.003
PMID:31922586
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.

摘要

目的

探讨一名患有丹迪-沃克畸形胎儿的遗传基础。

方法

对该胎儿进行G显带染色体核型分析、单核苷酸多态性微阵列（SNP阵列）和荧光原位杂交（FISH）检测。同时对其父母进行染色体核型分析和FISH检测。

结果

SNP阵列检测到胎儿6p25.3p25.1区域存在4266 kb的微缺失，FISH检测予以证实。对父母的FISH分析显示，父亲携带隐匿性t(6;14)(p25.1;p13)易位，而胎儿的der(6)t(6;14)(p25.1;p13)源自父亲的易位。

结论

der(6)t(6;14)(p25.1;p13)可能是导致该胎儿丹迪-沃克畸形的原因。6p25.3p25.1微缺失是由于父亲隐匿性平衡易位产生的不平衡配子所致。

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引用本文的文献

1
Clinical features and genetic analysis of Dandy-Walker syndrome.Dandy-Walker 综合征的临床特征和遗传学分析。
BMC Pregnancy Childbirth. 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1.