Prenatal diagnosis of a fetus with Mowat-Wilson syndrome
10.3760/cma.j.issn.1003-9406.2019.12.013
- VernacularTitle: 一例Mowat-Wilson综合征胎儿的产前诊断
- Author:
Rong HU
1
;
Xiaohui LUO
;
Yi LI
;
Jian LU
;
Weiwei HUANG
Author Information
1. Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 511400, China
- Publication Type:Clinical Trail
- Keywords:
Single nucleotide polymorphism array;
Mowat-Wilson syndrome;
Copy number variation
- From:
Chinese Journal of Medical Genetics
2019;36(12):1203-1205
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a fetus featuring increased nuchal thickness.
Methods:Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations (CNVs) in the fetus.
Results:The fetus was found to harbor a heterozygous 3.8 Mb deletion in the 2q22.2-q22.3 region encompassing the ZEB2 gene, which is closely associated with Mowat-Wilson syndrome (MWS).
Conclusion:Haploinsufficiency of the ZEB2 gene may predispose to MWS. Lack of knowledge regarding to the ultrasonographic features of MWS may lead to misdiagnosis of the syndrome.
