Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
Indian Pediatr
; 50(10): 965-6, 2013 Oct.
Article
in En
| MEDLINE
| ID: mdl-24222285
ABSTRACT
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Citrullinemia
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
En
Journal:
Indian Pediatr
Year:
2013
Document type:
Article
Affiliation country:
India
Publication country:
IN
/
INDIA
/
ÍNDIA