| Phenotypic checklist to screen for fragile X syndrome in people with mental retardation. | |
| | |
MedLine Citation:
|
PMID: 10900928 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The development of a phenotypic checklist for identifying people with fragile X syndrome is described. The checklist was designed to identify people with developmental disabilities of unknown causes for molecular genetic testing for fragile X syndrome. The list consists of 28 items (7 on physical characteristics and 21 on behavioral features). Validation data were collected for 110 boys and men with fragile X syndrome and for 79 members of a control group, matched for CA, level of cognitive development, and social (mal)adaptation. On the basis of checklist results, those boys who are likely to be diagnosed as having fragile X syndrome can be identified. The screening list can be considered to be a consistent, reliable, and valid instrument. |
| | |
Authors:
|
B Maes; J P Fryns; P Ghesquière; M Borghgraef |
Related Documents
:
|
15072518 - Psychological well-being and coping in mothers of youths with autism, down syndrome, or... 7285408 - Fat embolism syndrome following bilateral total knee replacement with total condylar pr... 3174078 - Nasal obstruction after cervical sympathectomy: horner's syndrome revisited. 12494438 - Concurrence of fragile x syndrome and 47, xyy in an individual with a prader-willi-like... 6410488 - Cerebral vasospasm. part i. in cerebral vascular malformations. 15130628 - Management of lens-iris diaphragm retropulsion syndrome during phacoemulsification. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Mental retardation Volume: 38 ISSN: 0047-6765 ISO Abbreviation: Ment Retard Publication Date: 2000 Jun |
Date Detail:
|
Created Date: 2000-08-02 Completed Date: 2000-08-02 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 18640670R Medline TA: Ment Retard Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 207-15 Citation Subset: IM |
Affiliation:
|
Centre of Human Genetics, Leuven, Belgium. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Aged Child Child, Preschool Cognition Disorders / classification, etiology Developmental Disabilities / classification*, etiology Fragile X Syndrome / diagnosis*, genetics, pathology Genetic Testing Humans Male Mass Screening* Middle Aged Phenotype Questionnaires Sensitivity and Specificity |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Transformational outcomes associated with parenting children who have disabilities.
Next Document: "I can speak for myself": involving individuals with intellectual disabilities as research participa...