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
em Zh
| WPRIM
| ID: wpr-781316
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Deleção de Sequência
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Fácies
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Diagnóstico
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Variações do Número de Cópias de DNA
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Feto
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Homeobox 2 de Ligação a E-box com Dedos de Zinco
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Genética
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Doença de Hirschsprung
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article