Nuchal thickening in Jacobsen syndrome.
Ultrasound Obstet Gynecol
; 12(4): 280-2, 1998 Oct.
Article
em En
| MEDLINE
| ID: mdl-9819862
ABSTRACT
A routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal alpha-fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome. Fetal autopsy performed following medical termination at 23 weeks confirmed the phenotype and internal abnormalities found in Jacobsen syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 11
/
Ultrassonografia Pré-Natal
/
Deleção Cromossômica
/
Doenças Fetais
/
Pescoço
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Ultrasound Obstet Gynecol
Assunto da revista:
DIAGNOSTICO POR IMAGEM
/
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Reino Unido