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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2000-12-12
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pubmed:abstractText |
Diagnosis of fragile X syndrome in mentally retarded individuals is satisfactorily achieved using a Southern blot test that detects the typical triplet repeat expansion (>200 repeats) within the FMR1 gene. All such individuals inherit the mutation from a carrier, who usually shows a lower triplet repeat number and may be asymptomatic. Having identified a fragile X proband, it is necessary to identify related carriers of this familial X-linked dominant mutation to provide family counseling and testing.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1084-8592
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
221-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11070156-Blotting, Southern,
pubmed-meshheading:11070156-Child, Preschool,
pubmed-meshheading:11070156-DNA Mutational Analysis,
pubmed-meshheading:11070156-Fragile X Mental Retardation Protein,
pubmed-meshheading:11070156-Fragile X Syndrome,
pubmed-meshheading:11070156-Genetic Linkage,
pubmed-meshheading:11070156-Heterozygote,
pubmed-meshheading:11070156-Humans,
pubmed-meshheading:11070156-Male,
pubmed-meshheading:11070156-Nerve Tissue Proteins,
pubmed-meshheading:11070156-Pedigree,
pubmed-meshheading:11070156-Polymerase Chain Reaction,
pubmed-meshheading:11070156-RNA-Binding Proteins,
pubmed-meshheading:11070156-Trinucleotide Repeat Expansion
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pubmed:year |
2000
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pubmed:articleTitle |
Identification of small FRAXA premutations.
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pubmed:affiliation |
Cytogenetics Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Victoria, Australia. francisd@cryptic.rch.unimelb.edu.au
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pubmed:publicationType |
Journal Article,
Case Reports
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