| Fragile-X syndrome in east Finland: molecular approach to genetic and prenatal diagnosis. | |
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MedLine Citation:
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PMID: 7943020 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M Ryynänen; L Pulkkinen; P Kirkinen; S Saarikoski |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 51 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1994-11-16 Completed Date: 1994-11-16 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 463-5 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, University Hospital of Kuopio, Finland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Fetal Diseases / diagnosis* Finland Fragile X Syndrome / diagnosis*, genetics*, psychology Genetic Counseling / psychology Heterozygote Detection Humans Male Patient Acceptance of Health Care Pregnancy Prenatal Diagnosis / psychology* |
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