{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T23:09:31Z","timestamp":1777763371197,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,5,8]],"date-time":"2008-05-08T00:00:00Z","timestamp":1210204800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,5,8]],"date-time":"2008-05-08T00:00:00Z","timestamp":1210204800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Cell Genet"],"abstract":"<jats:p>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\u2192p21.3::p21.1\u2192qter). 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.<\/jats:p>","DOI":"10.1159\/000132078","type":"journal-article","created":{"date-parts":[[2008,5,9]],"date-time":"2008-05-09T06:38:51Z","timestamp":1210315131000},"page":"298-307","source":"Crossref","is-referenced-by-count":61,"title":["Random X inactivation resulting in mosaic nullisomy of region Xp21.1\u2192p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease"],"prefix":"10.1159","author":[{"given":"U.","family":"Francke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,5,8]]},"container-title":["Cytogenetics and Cell Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/132078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000132078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:47:29Z","timestamp":1777474049000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000132078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,8]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000132078","archive":["Portico"],"relation":{},"ISSN":["0301-0171","1421-9816"],"issn-type":[{"value":"0301-0171","type":"print"},{"value":"1421-9816","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,8]]}}}