| Fragile site X chromosomes in mentally retarded boys. | |
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MedLine Citation:
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PMID: 8240748 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys. |
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Authors:
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H R Moon; S Y Moon |
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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 Korean medical science Volume: 8 ISSN: 1011-8934 ISO Abbreviation: J. Korean Med. Sci. Publication Date: 1993 Jun |
Date Detail:
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Created Date: 1994-01-04 Completed Date: 1994-01-04 Revised Date: 2011-03-17 |
Medline Journal Info:
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Nlm Unique ID: 8703518 Medline TA: J Korean Med Sci Country: KOREA |
Other Details:
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Languages: eng Pagination: 192-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Seoul National University College of Medicine, Korea. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Fragile X Syndrome / diagnosis, epidemiology, genetics* Humans Karyotyping Male Mental Retardation / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
| Full Text | |
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Journal Information Journal ID (nlm-ta): J Korean Med Sci Journal ID (pmc): jkms ISSN: 1011-8934 ISSN: 1598-6357 Publisher: Korean Academy of Medical Sciences |
Article Information Download PDF  Print publication date: Month: 6 Year: 1993 Volume: 8 Issue: 3 First Page: 192 Last Page: 196 ID: 3053744 PubMed Id: 8240748 |
| Fragile site X chromosomes in mentally retarded boys. | |
| H. R. Moon | |
| S. Y. Moon | |
| Department of Pediatrics, Seoul National University College of Medicine, Korea. |
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