Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy.
Indian Pediatr
;
2003 May; 40(5): 415-8
Article
Dans Anglais
| IMSEAR
| ID: sea-10110
ABSTRACT
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump from the deceased affected baby was used to confirm the diagnosis. Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Diagnostic prénatal
/
Conservation de tissu
/
Cordon ombilical
/
Femelle
/
Humains
/
Grossesse
/
Amyotrophies spinales infantiles
/
Adulte
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2003
Type:
Article
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