{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T21:26:33Z","timestamp":1764019593803,"version":"build-2065373602"},"reference-count":18,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:p>Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X\/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical picture includes mental retardation, a facial appearance reminiscent of the Kabuki make up syndrome, and limb anomalies. Some of the patients also had streaky hyperpigmentation of the skin in a pattern suggesting dermal mosaicism. It has been hypothesised that the severe phenotype might be the result of the small r(X) chromosome remaining active. However, there is little critical evidence to support this suggestion, while there is considerable evidence against it, including (1) a similar phenotype in 45,X\/46,X,r(Y) patients, (2) the late replication of some of the small r(X) chromosomes associated with this phenotype, and (3) the expression of XIST in some of the affected patients.<\/jats:p>","DOI":"10.1136\/jmg.30.6.482","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"482-486","source":"Crossref","is-referenced-by-count":59,"title":["Three patients with ring (X) chromosomes and a severe phenotype."],"prefix":"10.1136","volume":"30","author":[{"given":"N R","family":"Dennis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A L","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Crolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A E","family":"Cockwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P A","family":"Jacobs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1469-1809.1990.tb00379.x","article-title":"A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome","volume":"54","author":"Jacobs, P.A.; Betts, P.R.; Cockwell, A.E.","year":"1990","unstructured":"Jacobs PA, Betts PR, Cockwell AE, et al. A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet 1990;54:209-23.","journal-title":"Ann Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/349038a0","article-title":"A gene from the region of the human X-inactivation centre is expressed exclusively from the inactive X-chromosome","volume":"349","author":"Brown, C.J.; Ballabio, A.; Rupert, J.L.","year":"1991","unstructured":"Brown CJ, Ballabio A, Rupert JL, et al. A gene from the region of the human X-inactivation centre is expressed exclusively from the inactive X-chromosome. 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Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X\/46,X, + mar by use of chromosomespecific DNA probes. Am J Med Genet 1990;37:71-8.","journal-title":"Am J Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ajmg.1320420519","article-title":"Identification of the origin of ring\/marker chromosomes in patients with Ullrich-Turner syndrome using X-specific and Y-specific alpha-satellite DNA probes","volume":"42","author":"Tharapel, S.A.; Wilroy, R.S.; Keath, A.M.; Rivas, M.L.; Tharapel, A.T.","year":"1992","unstructured":"Tharapel SA, Wilroy RS, Keath AM, Rivas ML, Tharapel AT. Identification of the origin of ring\/marker chromosomes in patients with Ullrich-Turner syndrome using X-specific and Y-specific alpha-satellite DNA probes. 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