[Prenatal diagnosis of a fetus with Mowat-Wilson syndrome].

Journal: 2019/December - Chinese Journal of Medical Genetics

ISSN: 1003-9406

DOI: 10.3760/cma.j.issn.1003-9406.2019.12.013

Abstract:

To explore the genetic basis for a fetus featuring increased nuchal thickness.Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations (CNVs) in the fetus.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).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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