Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.
Am J Med Genet
; 43(1-2): 61-4, 1992.
Article
em En
| MEDLINE
| ID: mdl-1605236
ABSTRACT
New molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene(s), particularly for molecular studies of patients who do not have obvious mental retardation. This report describes a brief screening questionnaire designed to increase the detection of neurobehavioral dysfunction in individuals from fragile X families who are included in new molecular studies. Improved detection of the affected state in fragile X syndrome will allow more valid clinical data to be correlated with the important molecular information currently being collected.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
/
Qualitative_research
/
Screening_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article