Linked Life Data

11038444

Source:http://linkedlifedata.com/resource/pubmed/id/11038444

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-10-23
pubmed:abstractText
We describe a family with direct transmission of a duplication of 8p12-->8p21.1. The phenotype of affected relatives included mild mental retardation but no minor anomalies. The duplication was identified by means of GTG-banding and fluorescence in situ hybridization with a probe specific for 8p12 generated by microdissection and degenerate oligonucleotide primed-polymerase chain reaction. Assay of glutathione reductase, which has been localised to 8p21.1, was significantly increased when compared with controls with normal chromosomal constitution. To the best of our knowledge, a proximal direct duplication of 8p restricted to subbands p12-->p21.1 has not been reported so far. The reported aberration is compared with other partial duplications of 8p, in particular to inversion duplications 8p and to small direct distal duplications involving 8p23.1. Am. J. Med. Genet. 94:306-310, 2000.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2000, Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
2
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
306-10
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.
pubmed:affiliation
Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands. ute.moog@gen.unimaas.nl
pubmed:publicationType
Journal Article, Review