| A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. | |
| | |
MedLine Citation:
|
PMID: 8651274 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. The cytogenetic expression of FRAXE is thought to be associated with mental handicap, but this is usually mild compared to that of the more common fragile X syndrome that is associated with the expression of the FRAXA fragile site. The exact incidence of FRAXE mental retardation is uncertain. We describe here the results of a U.K. survey designed to assess the frequency of FRAXE in a population of individuals referred for fragile X syndrome testing and found to be negative for expansion events at the FRAXA locus. No FRAXE expansion events were found in 362 cytogenetically negative males studied, and one expansion event was identified in a sample of 534 males for whom cytogenetic analyses were either unrecorded or not performed. Further FRAXE expansion events were detected in two related females known to be cytogenetically positive for a fragile site in Xq27.3-28. To gain insight into the FRAXE phenotype, the clinical details of the identified FRAXE male plus three other FRAXE individuals identified through previous referrals for fragile X syndrome testing are presented. For the population studied, we conclude that FRAXE mental retardation is a relatively rare but significant form of mental retardation for which genetic diagnosis would be appropriate. |
| | |
Authors:
|
S J Knight; R J Ritchie; L Chakrabarti; G Cross; G R Taylor; R F Mueller; J Hurst; J Paterson; J R Yates; D J Dow; K E Davies |
Related Documents
:
|
18253874 - Do individuals with fragile x syndrome show developmental stuttering or not? comment on... 2295174 - Fat embolism syndrome following the intramedullary alignment guide in total knee arthro... 19168824 - Agenesis of internal carotid artery in a child with ipsilateral horner's syndrome. 4022944 - Prenatal diagnosis of the fragile-x in male monozygotic twins: discordant expression of... 9719504 - Fibrous dysplasia associated with intramuscular myxoma (mazabraud's syndrome): a long-t... 15630744 - Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosi... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of human genetics Volume: 58 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1996 May |
Date Detail:
|
Created Date: 1996-07-25 Completed Date: 1996-07-25 Revised Date: 2010-09-13 |
Medline Journal Info:
|
Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 906-13 Citation Subset: IM |
Affiliation:
|
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Base Sequence Chromosome Fragile Sites Chromosome Fragility England Female Fragile X Syndrome / epidemiology*, genetics Humans Male Mental Retardation / epidemiology, genetics* Molecular Sequence Data X Chromosome* |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The problem of ascertainment for linkage analysis.
Next Document: Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.