title: Three patients with ring (X) chromosomes and a severe phenotype.
abstract: 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.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
authors.forename: A L
authors.initials: AL
authors.lastname: Collins
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
authors.forename: A E
authors.initials: AE
authors.lastname: Cockwell
authors.forename: A M
authors.initials: AM
authors.lastname: Fisher
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D010826:Physiognomy; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012303:Ring Chromosomes; D014157:Transcription Factors / Q000096:biosynthesis; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014157:Transcription Factors; C077885:XIST non-coding RNA