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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1994-11-16
|
| pubmed:abstractText |
Fragile X is the most common inherited form of mental retardation, having an incidence of one in 1,250 males. The fragile X syndrome results from amplification of the CGG repeat found in the fragile X mental retardation-1-gene (FMR-1). This CGG repeat shows length variation in normal individuals and is increased significantly in both carriers and patients. Non-retarded carriers of both sexes can be detected reliably only by direct DNA analysis of the fra(X) mutation. Here we investigate fragile X families using the intragenic probes St.B 12.3 and St.B 12.3 XX (J-L Mandel). Fragile X syndrome could be verified in 51 families of the population of 900,000 in East-Finland during 1989-92. The index cases of the syndrome were found by the help of health care personnel, 463 relatives of these families consented to be tested for the mutation of the FMR-1 gene. Ninety-three relatives with the full mutation and 127 healthy carriers with the premutation of the fragile X syndrome were diagnosed. In addition, 28 decreased males were obligate carriers. During the year 1992 prenatal diagnosis for fragile X was carried out in nine pregnancies. For understanding of the occurrence of fragile X syndrome and for better prevention of this syndrome in next generations, systematic genetic counseling and carrier screening in these families is essential.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
51
|
| pubmed:geneSymbol |
FMR-1
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
463-5
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:7943020-Female,
pubmed-meshheading:7943020-Fetal Diseases,
pubmed-meshheading:7943020-Finland,
pubmed-meshheading:7943020-Fragile X Syndrome,
pubmed-meshheading:7943020-Genetic Counseling,
pubmed-meshheading:7943020-Heterozygote Detection,
pubmed-meshheading:7943020-Humans,
pubmed-meshheading:7943020-Male,
pubmed-meshheading:7943020-Patient Acceptance of Health Care,
pubmed-meshheading:7943020-Pregnancy,
pubmed-meshheading:7943020-Prenatal Diagnosis
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Fragile-X syndrome in east Finland: molecular approach to genetic and prenatal diagnosis.
|
| pubmed:affiliation |
Department of Obstetrics and Gynecology, University Hospital of Kuopio, Finland.
|
| pubmed:publicationType |
Journal Article
|