Disabilities caused by unstable mutations in Costa Rica
Rev. biol. trop
;
52(3): 501-505, sept. 2004. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-501731
ABSTRACT
Myotonic dystrophy and fragile X syndrome are two genetically determined relatively common disabilities. Both are examples of a new type of mutation mechanism called unstable or dynamic mutations, triple repeats expansions or DNA amplification. Fragile X syndrome is recognized as the main cause of hereditary mental retardation and myotonic dystrophy is considered the most common muscular dystrophy of adults. This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques (Southern blot and PCR) and to perform cascade screening of the rest of the family to offer them adequate genetic counseling. We were able to corroborate the initial diagnosis in most clinical cases of myotonic dystrophy, but in the cases of mental retardation more than half studies were negative for fragile X syndrome, stressing the difficulties encountered by medical practitioners to diagnose this syndrome. The reasons for this are several; probable the main culprit is the subtle and unspecific clinical picture affected individuals exhibit, particularly children before puberty. Cascade screening, genetic counseling and selective abortion are the only tools available to prevent these disabling diseases for the moment.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Expansión de Repetición de Trinucleótido
/
Síndrome del Cromosoma X Frágil
/
Mutación
/
Distrofia Miotónica
Tipo de estudio:
Ensayo Clínico Controlado
/
Estudio observacional
/
Factores de riesgo
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America Central
/
Costa Rica
Idioma:
Inglés
Revista:
Rev. biol. trop
Asunto de la revista:
Biologia
/
Medicina Tropical
Año:
2004
Tipo del documento:
Artículo
País de afiliación:
Costa Rica
Institución/País de afiliación:
Universidad de Costa Rica/CR
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