Abstract:
:The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal Hb and increased number of nuclear projections on neutrophils are consistent findings associated with partial trisomy of a proximal segment of chromosome 13 and are diagnostic for trisomy of a partial segment of chromosome 13 that contains bands 13q12 and 13q14. The physical features of polydactyly and hemangioma have been mapped to bands 13q31 and 13q32----13qter and provide a differential diagnosis for a distal trisomic segment of chromosome 13 that may include bands 13q22----13qter. A segment of chromosome 13 has been identified that does not produce any detectable phenotypes in the triplicated state. The possible role of a triplicated 13q segment in altering expression of structural and regulatory systems elsewhere in the genome has been examined. Distinct clinical syndromes involving either a partial proximal or partial distal trisomic segment of chromosome 13 may be phenotypically defined.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Rogers JFdoi
10.1111/j.1399-0004.1984.tb01982.xsubject
Has Abstractpub_date
1984-03-01 00:00:00pages
221-9issue
3eissn
0009-9163issn
1399-0004journal_volume
25pub_type
杂志文章abstract::It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:
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abstract::Social stigmatization can disrupt the ability of individuals with genetic conditions to successfully adapt to their situation. We offer data on perceptions of stigma from a cross-sectional survey of 174 adults with Marfan syndrome by self-report. Fifty-six respondents (32%) reported feeling discriminated against or so...
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb00054.x
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journal_title:Clinical genetics
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pub_type: 杂志文章,评审
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560110.x
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pub_type: 信件
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,meta分析,评审
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更新日期:2017-02-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1988-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02045.x
更新日期:1985-06-01 00:00:00