Linked Life Data

3168313

Source:http://linkedlifedata.com/resource/pubmed/id/3168313

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1988-11-22
pubmed:abstractText
We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non-specific mental retardation, 101 first-degree relatives of fra(X) positive patients and 36 non-retarded patients, referred for other reasons. As a rule 50 cells, cultured in folate-deficient medium were analysed. The results are compared with data collected from the literature and with the data expected from prior genetic risks and fra(X) penetrance. If no more than 50 cells were analysed, the fragile site was found in a lower than expected proportion (69.2%) of the retarded first-degree male relatives. The conclude that in a substantial number of unselected patients with mental retardation the diagnosis fra(X) syndrome will only be confirmed cytogenetically if at least 100 cells are analysed. Five percent of the male and 10% of the female index patients showed a fragile X-like abnormality, probably not associated with the Martin-Bell syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
410-7
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
The fragile X-chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981-1986.
pubmed:affiliation
Clinical Genetics Centre, University Hospital, Leiden, The Netherlands.
pubmed:publicationType
Journal Article