| Is there a fragile(X) negative Martin-Bell syndrome? | |
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MedLine Citation:
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PMID: 3052069 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The literature and 4 families previously thought to have the fra(X) negative Martin-Bell syndrome were also reviewed. We were unable to make a concrete diagnosis of the fra(X) negative Martin-Bell syndrome. |
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Authors:
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A Thode; S Laing; M W Partington; G Turner |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 30 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1988 May-Jun |
Date Detail:
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Created Date: 1988-11-08 Completed Date: 1988-11-08 Revised Date: 2005-11-16 |
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: 459-71 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Fragile X Syndrome / diagnosis, genetics* Humans Linkage (Genetics) Male Mental Retardation / genetics Middle Aged Pedigree Phenotype Sex Chromosome Aberrations / genetics* X Chromosome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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