Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 71-73, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879526
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with lissencephaly.@*METHODS@#Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.@*RESULTS@#The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17 1-2 588 909).@*CONCLUSION@#The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 17
/
Testes Genéticos
/
Deleção Cromossômica
/
1-Alquil-2-acetilglicerofosfocolina Esterase
/
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
/
Feto
/
Proteínas Associadas aos Microtúbulos
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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