Linked Life Data

1351363

Source:http://linkedlifedata.com/resource/pubmed/id/1351363

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1992-7-16
pubmed:abstractText
Eleven complete Spanish pedigrees with fragile X syndrome were analysed by Southern blotting with the DNA probe StB12.3 previously isolated and described by Oberlé et al. [1991]. This probe allowed the direct detection of affected males and carrier females and was able to distinguish between normal males and normal transmitting males (NTMs). One hundred and twenty three individuals were analyzed, 115 from the pedigrees and 8 from the general population. Five mosaic cases were found (4 males and one female) showing both the premutation and the full mutation. One half of the females with the full mutation were mentally retarded but no female with mental retardation carried the premutated pattern, suggesting that the absence of the full mutation in females is a very good criterion for pre-or postnatal diagnosis of normal mental status.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
282-90
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Direct DNA analysis of fragile X syndrome in Spanish pedigrees.
pubmed:affiliation
Unidad de Genetica Humana, Santo Hospital Civil, Bilbao, Spain.
pubmed:publicationType
Journal Article