| The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. | |
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MedLine Citation:
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PMID: 7328617 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A clinical and cytogenetic study has been made of subjects from families who have possible X linked mental retardation. The families were distinguished as those with a clinical diagnosis of Renpenning syndrome and those with other behavioural or physical abnormalities obviating such a diagnosis. All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. In addition, two other families who did not have Renpenning syndrome but had similar clinical features also carried the fragile site Xq27-28. A female age effect was observed and one possible carrier of Renpenning syndrome exhibited the fragile X in 10% of her lymphocytes but was also mentally retarded. Subjects within the same family did not always exhibit the fragile site on a comparable proportion of their cells. |
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Authors:
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R Proops; T Webb |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 18 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1981 Oct |
Date Detail:
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Created Date: 1982-04-12 Completed Date: 1982-04-12 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 366-73 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Fragile Sites Chromosome Fragility* Female Heterozygote Detection Humans Karyotyping Linkage (Genetics) Male Mental Retardation / genetics* Pedigree Phenotype Sex Chromosomes* X Chromosome* |
| Comments/Corrections | |
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