Fragile X syndrome a case report of a family.
Indian J Pathol Microbiol
;
2001 Oct; 44(4): 499-502
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Aberraciones Cromosómicas Sexuales
/
Cromosoma X
/
Femenino
/
Humanos
/
Masculino
/
ADN
/
Niño
/
Reacción en Cadena de la Polimerasa
/
Salud de la Familia
/
Adolescente
Idioma:
Inglés
Revista:
Indian J Pathol Microbiol
Año:
2001
Tipo del documento:
Artículo
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