False Negative Carrier Screening in Spinal Muscular Atrophy.
J Child Neurol
; 35(4): 274-277, 2020 03.
Article
em En
| MEDLINE
| ID: mdl-31858866
ABSTRACT
We describe a case of spinal muscular atrophy diagnosed in an infant despite previous parental carrier testing suggesting low risk of the disease. This case report explains how this situation arose and illustrates that clinicians need to perform diagnostic testing in children where clinical suspicion for spinal muscular atrophy is high, regardless of the result of previous parental carrier testing, because of the risk of false negative results.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Testes Genéticos
/
Proteína 1 de Sobrevivência do Neurônio Motor
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Child Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Austrália