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Brief screening questionnaire for determining affected state in fragile X Syndrome: A consensus recommendation

 

作者: Allan L. Reiss,   Carlo Cianchetti,   Ira L. Cohen,   Bert Devries,   Randi Hagerman,   Veronica Hinton,   Ursula Froster,   Ave Lachiewicz,   Michele Mazzocco,   William Sobesky,   Vicki Sudhalter,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1992）
卷期: Volume 43, issue 1‐2  

页码: 61-64

 

ISSN:0148-7299

 

年代: 1992

 

DOI:10.1002/ajmg.1320430109

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: Fragile X syndrome;behavior;cognitive;assessment;phenotype;questionnaire;X‐linked mental retardation

 

数据来源: WILEY

 

摘要:

AbstractNew 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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