Abstract:
:With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male-to-male transmission, while one large pedigree is tentatively compatible with sex-linked dominant inheritance. Many of the other pedigrees suggested male-to-male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male-to-male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary nephritis is likely.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Evans SH,Erickson RP,Kelsch R,Peirce JCdoi
10.1111/j.1399-0004.1980.tb00149.xsubject
Has Abstractpub_date
1980-04-01 00:00:00pages
285-92issue
4eissn
0009-9163issn
1399-0004journal_volume
17pub_type
杂志文章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 infant...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1978.tb02121.x
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journal_title:Clinical genetics
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更新日期:2002-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04183.x
更新日期:1994-11-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2010-02-01 00:00:00
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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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更新日期:2003-09-01 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:2013-05-01 00:00:00