{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T08:44:15Z","timestamp":1698396255300},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3725,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Using standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X\/46,XXq+\/46,X+mar (X)\/47,XXq+,+mar(X), was identified in a patient with Ullrich\u2010Turner syndrome (UTS). High\u2010resolution banding (n = 650) of the metaphase chromosomes yielded a breakpoint at q28 on the Xq+ rearranged chromosome. FISH was used to determine the presence of Y\u2010containing DNA in the Xq+ and the mar(X) chromosomes. The following molecular probes were used: DYZ1, DYZ3, and spectrum orange WCP Y. The lack of specific hybridization of these probes was interpreted as a low risk of gonadoblastoma in this patient. Using X\u2010chromosome\u2010 and centromerespecific probes, FISH demonstrated the presence of hybridizing material on both rearranged chromosomes, the Xq+ and mar(X). Finally, we determined that the mar(X) and Xq+ chromosomes contained telomeres in the absence of any interstitial telomeric hybridizing material. A micro\u2010X chromosome is present in this UTS patient. Delineation of events leading toward the mechanisms responsible for the multiple DNA rearrangements required to generate the micro\u2010X and Xq+ chromosomes awaits future studies. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:59:25Z","timestamp":1118512765000},"page":"141-146","source":"Crossref","is-referenced-by-count":1,"title":["X microchromosome with additional chromosome anomalies found in Ullrich\u2010Turner syndrome"],"prefix":"10.1002","volume":"56","author":[{"given":"Karen 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