{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T06:22:31Z","timestamp":1787206951194,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T00:00:00Z","timestamp":1126483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ullrich\u2013Turner syndrome (UTS) is most commonly due to a 45,X chromosome defect, but is also seen in patients with a variety of X\u2010chromosome abnormalities or 45,X\/46,XY mosaicism. The phenotype of UTS patients is highly variable, and depends largely on the karyotype. Patients are at an increased risk of gonadoblastoma when a Y\u2010derived chromosome or chromosome fragment is present. Since constitutional mosaicism is present in approximately 50% of UTS patients, the identification of minor cell populations is clinically important and a challenge to laboratories. We identified 50 females with a 45,X karyotype as the sole abnormality or as part of a more complex karyotype. Twenty two (44%) had a 45,X karyotype; mosaicism for a second normal or structurally abnormal X was observed in 24 (48%) samples, and mosaicism for Y chromosomal material in 4 (8%) cases. To further investigate the possibility of mosaicism in the 22 patients with an apparently non\u2010mosaic 45,X karyotype, we performed FISH using centromere probes for the X and Y chromosomes. A minor XX cell line was identified in 3 patients, and the 45,X result was confirmed in 19 samples. No samples with XY mosaicism were identified. We describe our validation process for a FISH assay to be used in clinical practice to identify XX or XY mosaicism. FISH as an adjunct to karyotype analysis provides a sensitive and cost\u2010effective technique to identify sex chromosome mosaicism in UTS patients. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30954","type":"journal-article","created":{"date-parts":[[2005,9,13]],"date-time":"2005-09-13T00:46:46Z","timestamp":1126572406000},"page":"259-261","source":"Crossref","is-referenced-by-count":34,"title":["Detection of low level sex chromosome mosaicism in Ullrich\u2013Turner syndrome patients"],"prefix":"10.1002","volume":"138A","author":[{"given":"Anne E.","family":"Wiktor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,9,12]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"American College of Medical Genetics.2005.Standards and Guidelines for Clinical Genetics Laboratories. Available at:http:\/\/www.acmg.net\/Pages\/ACMG_Activities\/stds\u20102002\/stdsmenu\u2010n.htmAccessed on: May 12 2005."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2003.08.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3199"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10812"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289473"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8545(03)00026-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5338.675"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10168"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10813"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430617"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000127270.49902.56"},{"key":"e_1_2_6_14_1","unstructured":"WiktorAE FinkSR StupcaP StockeroK MajorowiczJR Van DykeDL DewaldGW.2005.Validation of FISH probes for clinical practice. American College of Medical Genetics Annual Meeting Dallas March 17\u201320 2005."}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30954","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30954","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.30954","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T14:45:58Z","timestamp":1693665958000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,12]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,10,15]]}},"alternative-id":["10.1002\/ajmg.a.30954"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30954","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,12]]}}}