| Fragile X syndrome. | |
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MedLine Citation:
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PMID: 3325231 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists because of its unusual inheritance pattern involving nonpenetrant males. This syndrome has also spearheaded an appreciation of cytogenetic abnormalities in the etiology of all degrees of developmental delay. |
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Authors:
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R J Hagerman |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Current problems in pediatrics Volume: 17 ISSN: 0045-9380 ISO Abbreviation: Curr Probl Pediatr Publication Date: 1987 Nov |
Date Detail:
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Created Date: 1988-03-29 Completed Date: 1988-03-29 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 1272515 Medline TA: Curr Probl Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 621-74 Citation Subset: IM |
Affiliation:
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University of Colorado Health Sciences Center, Denver. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Child Child Behavior Combined Modality Therapy Diagnosis, Differential Female Fragile X Syndrome / genetics*, psychology, therapy Genetic Counseling Heterozygote Humans Infant, Newborn Intelligence Karyotyping Language Development Male Sex Chromosome Aberrations / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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