Abstract:
:Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism. A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mutation present in 25% of lymphocyte DNA. Further tissue lineages have been tested and the time at which the mutation arose was determined to be before the cellular differentiation into the bilaminar disc at approximately eight days after fertilisation. We suggest that the incidence of mosaicism for dystrophin point mutations may be higher than current data suggest.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Smith TA,Yau SC,Bobrow M,Abbs SJkeywords:
subject
Has Abstractpub_date
1999-04-01 00:00:00pages
313-5issue
4eissn
0022-2593issn
1468-6244journal_volume
36pub_type
杂志文章abstract::An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...
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pub_type: 杂志文章,评审
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更新日期:2009-09-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1999-09-01 00:00:00
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.33.11.965
更新日期:1996-11-01 00:00:00
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journal_title:Journal of medical genetics
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:1998-10-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1976-12-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1999-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1997-03-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1988-03-01 00:00:00
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doi:10.1136/jmedgenet-2019-106474
更新日期:2020-06-01 00:00:00
abstract::A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thir...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.9.565
更新日期:1989-09-01 00:00:00
abstract:BACKGROUND:Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable ren...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.073833
更新日期:2010-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-105991
更新日期:2019-12-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2007-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1988-05-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.31.6.448
更新日期:1994-06-01 00:00:00
abstract::Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect co...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.2.114
更新日期:1991-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.4.252
更新日期:1991-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2018-105266
更新日期:2018-08-01 00:00:00
abstract::A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.6.473
更新日期:1981-12-01 00:00:00
abstract:BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043059
更新日期:2007-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106152
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epile...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-103909
更新日期:2016-12-01 00:00:00