Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes.
Fetal Pediatr Pathol
; 32(4): 293-7, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23301910
ABSTRACT
We report a new and rare case of recurrent anencephaly in a family with no other apparent abnormalities. The karyotypes of the family and all affected subjects were normal. Thorough mutational analyses of VANGL1 of chromosome 1p13.1 and FOXN1 of chromosome 17q11-q12, genes that are associated with phenotypes of the anencephaly spectrum, unfortunately did not disclose any DNA variations in an affected fetus of this family. The etiology of recurrent anencephaly in this family is therefore due to mutations in genes yet to be discovered, perhaps of the planar cell polarity pathway, or to possible environmental gestational factors during development.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
/
Fatores de Transcrição Forkhead
/
Anencefalia
/
Proteínas de Membrana
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Fetal Pediatr Pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Canadá