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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1993-6-9
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pubmed:abstractText |
We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.
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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 |
Aug
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:geneSymbol |
FMR1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
341-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1302032-Adult,
pubmed-meshheading:1302032-Base Sequence,
pubmed-meshheading:1302032-Cells, Cultured,
pubmed-meshheading:1302032-Chromosome Banding,
pubmed-meshheading:1302032-Chromosome Mapping,
pubmed-meshheading:1302032-Female,
pubmed-meshheading:1302032-Fragile X Mental Retardation Protein,
pubmed-meshheading:1302032-Fragile X Syndrome,
pubmed-meshheading:1302032-Gene Deletion,
pubmed-meshheading:1302032-Humans,
pubmed-meshheading:1302032-Karyotyping,
pubmed-meshheading:1302032-Lymphocytes,
pubmed-meshheading:1302032-Male,
pubmed-meshheading:1302032-Nerve Tissue Proteins,
pubmed-meshheading:1302032-Pedigree,
pubmed-meshheading:1302032-RNA-Binding Proteins,
pubmed-meshheading:1302032-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:1302032-X Chromosome
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pubmed:year |
1992
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pubmed:articleTitle |
Fragile X syndrome without CCG amplification has an FMR1 deletion.
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pubmed:affiliation |
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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