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.
Artículo
en Chino
| WPRIM
| ID: wpr-781316
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Eliminación de Secuencia
/
Facies
/
Diagnóstico
/
Variaciones en el Número de Copia de ADN
/
Feto
/
Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc
/
Genética
/
Enfermedad de Hirschsprung
/
Discapacidad Intelectual
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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