| Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome. | |
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MedLine Citation:
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PMID: 2420177 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 14-month-old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause. |
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Authors:
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C A Williams; E S Cantú; J L Frías |
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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: American journal of medical genetics Volume: 23 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1986 Jan-Feb |
Date Detail:
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Created Date: 1986-04-04 Completed Date: 1986-04-04 Revised Date: 2006-11-15 |
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: 207-11 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Developmental Disabilities
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genetics Dysostoses / complications, genetics* Fragile X Syndrome / complications*, diagnosis, genetics Humans Infant Male Nystagmus, Pathologic / complications, congenital, genetics* Sex Chromosome Aberrations / complications* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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