Prenatal diagnosis of Wolf-Hirschhorn syndrome: a case report / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 134-136, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-745994
ABSTRACT
This study reported a case of fetal developmental retardation indicated by ultrasound from 17+2 to 34+5 gestations.Single nucleotide polymorphism (SNP) array was performed to detect the copy number variation in the whole genome for the fetus and parents.A 2.42 Mb deletion at 4p16.3 was found in the fetus,but in neither parents,which suggesting a de novo mutation.Thus,the fetus was finally diagnosed with Wolf-Hirschhorn syndrome.No obvious'Greek warrior helmet'appearance or other facial deformity was observed in the delivered fetus.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Perinatal Medicine
Ano de publicação:
2019
Tipo de documento:
Artigo
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