| Screening for fra(x) mutation and Klinefelter syndrome in mental institutions. | |
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MedLine Citation:
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PMID: 2036739 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A total of 9153 male subjects in mental institutions from six different Italian districts were screened for the presence of bilateral microorchidism, in order to detect Klinefelter syndrome. Among the 212 microorchidic patients found, 33 had an XXY karyotype (15.5%). Ninety-one Klinefelter patients with normal intelligence were also examined as a control group. Cytogenetical and clinical findings were compared in these two groups of patients and no difference was found. Two fra(x)positive subjects were found, one for each group of XXY patients; the influence of fra(x) mutation on their phenotype is discussed. |
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Authors:
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V Pecile; G Filippi |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 39 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1991 Mar |
Date Detail:
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Created Date: 1991-07-03 Completed Date: 1991-07-03 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 189-93 Citation Subset: IM |
Affiliation:
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Servizio di Genetica, Università degli Studi, Trieste, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Fragile X Syndrome / complications, epidemiology*, genetics Genetic Markers / genetics Genetic Testing / methods* Hospitals, Psychiatric* Humans Incidence Italy / epidemiology Karyotyping Klinefelter Syndrome / complications, epidemiology*, genetics Male Mental Retardation / complications* Middle Aged Phenotype Testis / abnormalities* |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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