Fragile X syndrome a case report of a family.
Indian J Pathol Microbiol
;
2001 Oct; 44(4): 499-502
Article
Dans Anglais
| IMSEAR
| ID: sea-73628
ABSTRACT
Fragile X syndrome is the most common of the inherited disorders causing mental retardation. This disorder results from an abnormal expansion in (CGG)n in repeat found in the coding sequence of the FMRI gene, located at Xq 27.3. Previously it was detected by Karyotyping. With the advent of Molecular Biology PCR, has become the best method in the diagnosis of this disorder. This is a case report of a family with this disorder detected by PCR.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Aberrations des chromosomes sexuels
/
Chromosome X
/
Femelle
/
Humains
/
Mâle
/
ADN
/
Enfant
/
Réaction de polymérisation en chaîne
/
Santé de la famille
/
Adolescent
langue:
Anglais
Texte intégral:
Indian J Pathol Microbiol
Année:
2001
Type:
Article
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