| pubmed-article:6510024 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0043297 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0018203 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0268542 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0332294 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0439750 | lld:lifeskim |
| pubmed-article:6510024 | lifeskim:mentions | umls-concept:C0439605 | lld:lifeskim |
| pubmed-article:6510024 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:6510024 | pubmed:dateCreated | 1985-2-8 | lld:pubmed |
| pubmed-article:6510024 | pubmed:abstractText | A young woman with normal gonadal development and mild mental retardation was found to have a small de novo interstitial deletion of most of band Xp21, karyotype designation 46,X,del(X) (pter----p21.3:: p21.1----qter). Replication studies on lymphocytes and skin fibroblasts revealed that in 45% of cells the normal X was late replicating. Somatic cell hybrids between her fibroblasts and HPRT-deficient Chinese hamster cells were obtained and selected for and against retention of the active human X chromosome. In several independent hybrids the deleted X was retained in the active state. Partial ornithine transcarbamylase (ornithine carbamoyltransferase EC 2.1.3.3) (OTC) deficiency was documented by elevated urinary orotic acid excretion and increased serum glutamine after a protein load. This confirms the mapping of the structural gene for OTC to this deletion. Testing of neutrophil function revealed heterozygosity for chronic granulomatous disease (CGD) suggesting that a gene for CGD maps within the deletion. Thus, X inactivation mosaicism is also present in hepatocytes and neutrophilic granulocytes. Random X inactivation in a female with an Xp deletion has not been previously reported. The cells from this patient and the somatic cell hybrids containing her deleted X chromosome in the absence of the normal X provide material for the precise mapping of X linked genes and DNA sequences on the short arm of the human X chromosome. | lld:pubmed |
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| pubmed-article:6510024 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6510024 | pubmed:language | eng | lld:pubmed |
| pubmed-article:6510024 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6510024 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:6510024 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:6510024 | pubmed:issn | 0301-0171 | lld:pubmed |
| pubmed-article:6510024 | pubmed:author | pubmed-author:FranckeUU | lld:pubmed |
| pubmed-article:6510024 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:6510024 | pubmed:volume | 38 | lld:pubmed |
| pubmed-article:6510024 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:6510024 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:6510024 | pubmed:pagination | 298-307 | lld:pubmed |
| pubmed-article:6510024 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:6510024 | pubmed:meshHeading | pubmed-meshheading:6510024-... | lld:pubmed |
| pubmed-article:6510024 | pubmed:year | 1984 | lld:pubmed |
| pubmed-article:6510024 | pubmed:articleTitle | Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. | lld:pubmed |
| pubmed-article:6510024 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:6510024 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:6510024 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:6510024 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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