Prenatal diagnosis of a fetus with Mowat-Wilson syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1203-1205, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-799977
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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