首页   按字顺浏览 期刊浏览 卷期浏览 Fragile‐X syndrome in North East Essex: towards systematic screening: clinical selection
Fragile‐X syndrome in North East Essex: towards systematic screening: clinical selection

 

作者: M. SABARATNAM,   S. LAYER,   L. BUTLER,   M. PEMBREY,  

 

期刊: Journal of Intellectual Disability Research  (WILEY Available online 1994)
卷期: Volume 38, issue 1  

页码: 27-35

 

ISSN:0964-2633

 

年代: 1994

 

DOI:10.1111/j.1365-2788.1994.tb00344.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

ABSTRACT.A systematic screening for fragile‐X syndrome, using various clinical criteria to preselect for cytogenetic testing, was performed throughout the North East Essex Health District on 1100 people attending three different local services for people with learning disability. The selection procedure used varied from a gestalt impression to head, ear and testis measurement depending on the setting. Fifty‐nine males and five females who met the selection criteria went on to have chromosome studies. Of these, 23 males and one female were positive (more than 4% positive cells). They came from 19 families. Whilst the true prevalence of fragile‐X syndrome is not known in the district,at a minimum, it contributed 3.2% of the institutionalized males (health authority care), 4.4% of the boys and 2.1% of the girls attending special schools for severe learning disability, 7.9% of the boys attending schools for mild learning disability (Local Education Authority), and 3.5% of men attending the two adult training centres within the district (social services). These figures compare well with the yield from reported surveys in which all individuals without a known diagnosis were tested cytogeneti

 

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