Abstract:
:A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Dean JC,Couzin DA,Gray ES,Lloyd DJ,Stephen GSdoi
10.1111/j.1399-0004.1991.tb03108.xsubject
Has Abstractpub_date
1991-11-01 00:00:00pages
349-52issue
5eissn
0009-9163issn
1399-0004journal_volume
40pub_type
杂志文章abstract::Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatrop...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12978
更新日期:2017-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00609.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb04457.x
更新日期:1993-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03666.x
更新日期:1992-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2000-03-01 00:00:00
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journal_title:Clinical genetics
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.1399-0004.2002.620512.x
更新日期:2002-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03693.x
更新日期:1998-07-01 00:00:00
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doi:10.1034/j.1399-0004.2000.580107.x
更新日期:2000-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb00003.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00498.x
更新日期:1984-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2011-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-03-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2010-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01455.x
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1997.tb02432.x
更新日期:1997-02-01 00:00:00