Abstract:
:Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Brewer CM,Lam WW,Hayward C,Grace E,Maher ER,FitzPatrick DRdoi
10.1136/jmg.35.2.162subject
Has Abstractpub_date
1998-02-01 00:00:00pages
162-4issue
2eissn
0022-2593issn
1468-6244journal_volume
35pub_type
杂志文章abstract::We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...
journal_title:Journal of medical genetics
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1991-12-01 00:00:00
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journal_title:Journal of medical genetics
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pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101207
更新日期:2013-06-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1995-03-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1983-06-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1998-08-01 00:00:00
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更新日期:1980-12-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2020-09-01 00:00:00
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更新日期:2000-02-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2020-05-19 00:00:00
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更新日期:2017-11-01 00:00:00
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journal_title:Journal of medical genetics
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