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  • Title: [Prenatal diagnosis of a fetus with Mowat-Wilson syndrome].
    Author: Hu R, Luo X, Li Y, Lu J, Huang W.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1203-1205. PubMed ID: 31813148.
    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.
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