| pubmed-article:1609846 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1609846 | lifeskim:mentions | umls-concept:C1321860 | lld:lifeskim |
| pubmed-article:1609846 | lifeskim:mentions | umls-concept:C0004903 | lld:lifeskim |
| pubmed-article:1609846 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1609846 | pubmed:dateCreated | 1992-7-22 | lld:pubmed |
| pubmed-article:1609846 | pubmed:abstractText | Monozygotic (MZ) twinning occurs with relatively high frequency in Wiedemann-Beckwith syndrome (WBS). Ten sets of MZ twins with WBS have been reported. Nine of these have been female and in each case the twins were discordant for the WBS phenotype. The tenth set was male. They were concordant for WBS and both had a duplication of chromosome 15 which they shared in common with their phenotypically normal mother. The WBS gene has been assigned to the locus 11p15 and there appear to be several different genetic mechanisms involving this locus which all give rise to WBS. An imprinting effect for the WBS gene has been proposed because of the transmission of the gene preferentially through the maternal line in some large pedigrees. We describe two further sets of female MZ twins with WBS. One pair is concordant and one discordant for the condition. The possible genetic mechanisms involved in the expression of WBS are discussed, with particular reference to twinning, genomic imprinting and X-inactivation which is thought to be associated with the occurrence of MZ twinning in females. | lld:pubmed |
| pubmed-article:1609846 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1609846 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1609846 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1609846 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1609846 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:1609846 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:1609846 | pubmed:author | pubmed-author:ReadA PAP | lld:pubmed |
| pubmed-article:1609846 | pubmed:author | pubmed-author:DonnaiDD | lld:pubmed |
| pubmed-article:1609846 | pubmed:author | pubmed-author:Clayton-Smith... | lld:pubmed |
| pubmed-article:1609846 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1609846 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:1609846 | pubmed:volume | 42 | lld:pubmed |
| pubmed-article:1609846 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1609846 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1609846 | pubmed:pagination | 633-7 | lld:pubmed |
| pubmed-article:1609846 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:meshHeading | pubmed-meshheading:1609846-... | lld:pubmed |
| pubmed-article:1609846 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1609846 | pubmed:articleTitle | Monozygotic twinning and Wiedemann-Beckwith syndrome. | lld:pubmed |
| pubmed-article:1609846 | pubmed:affiliation | Department of Medical Genetics, St Mary's Hospital, Manchester, England. | lld:pubmed |
| pubmed-article:1609846 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1609846 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1609846 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1609846 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1609846 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1609846 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1609846 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1609846 | lld:pubmed |
