| Fragile X syndrome without CCG amplification has an FMR1 deletion. | |
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MedLine Citation:
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PMID: 1302032 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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A K Gedeon; E Baker; H Robinson; M W Partington; B Gross; A Manca; B Korn; A Poustka; S Yu; G R Sutherland |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Nature genetics Volume: 1 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 1992 Aug |
Date Detail:
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Created Date: 1993-06-09 Completed Date: 1993-06-09 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 341-4 Citation Subset: IM |
Affiliation:
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Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Cells, Cultured Chromosome Banding Chromosome Mapping Female Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Gene Deletion* Humans Karyotyping Lymphocytes / physiology Male Nerve Tissue Proteins / genetics* Pedigree RNA-Binding Proteins* Repetitive Sequences, Nucleic Acid X Chromosome* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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