{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:03:50Z","timestamp":1790795030706,"version":"4.1.0"},"reference-count":35,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,11]]},"abstract":"<jats:p>We report on the characterisation of a complex chromosome rearrangement, 46,X,del(Xq)\/47,X,del(Xq),+r(X), in a female newborn with multiple malformations. Cytogenetic and molecular methods showed that the del(Xq) contains the XIST locus and is non-randomly inactivated in all metaphases. The tiny r(X) chromosome gave a positive FISH signal with UBE1, ZXDA, and MSN cosmid probes, but not with a XIST cosmid probe. Moreover, it has an active status, as shown by a very short (three hour) terminal BrdU pulse followed by fluorescent anti-BrdU antibody staining. The normal X is of paternal origin and both rearranged chromosomes originate from the same maternal chromosome. We suggest that both abnormal chromosomes result from the three point breakage of a maternal isodicentric idic(X)(q21.1). Finally, the phenotype of our patient is compared to other published cases and, despite the absence of any 45,X clone, it appears very similar to those with a 45,X\/46,X,r(X) karyotype where the tiny r(X) is active.<\/jats:p>","DOI":"10.1136\/jmg.35.11.932","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"932-938","source":"Crossref","is-referenced-by-count":11,"title":["Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study."],"prefix":"10.1136","volume":"35","author":[{"given":"C","family":"Stavropoulou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Mignon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Delobel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Moncla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Depetris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M F","family":"Croquette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M G","family":"Mattei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/ajmg.1320280304","article-title":"45X\/ 46, X, r(X) with syndactyly and severe mental retardation","volume":"28","author":"Kushnick, T.; Irons, T.G.; Wiley, J.E.; Gettis, E.A.; Rao, K.W.","year":"1987","unstructured":"Kushnick T, Irons TG, Wiley JE, Gettis EA, Rao KW. 45X\/ 46,X,r(X) with syndactyly and severe mental retardation. 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