{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:10:13Z","timestamp":1766869813635},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T00:00:00Z","timestamp":1047340800000},"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":[[2003,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Turner syndrome is hypothesized to result from haplo\u2010insufficency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype\/phenotype correlations. In this clinical report, we present a male with a de novo, non\u2010mosaic deletion of the Y\u2010chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y\u2010chromosome could provide important information towards establishing genotype\/phenotype correlations in Turner syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10147","type":"journal-article","created":{"date-parts":[[2003,5,12]],"date-time":"2003-05-12T11:31:56Z","timestamp":1052739116000},"page":"234-237","source":"Crossref","is-referenced-by-count":7,"title":["Male patient with non\u2010mosaic deleted Y\u2010chromosome and clinical features of Turner syndrome"],"prefix":"10.1002","volume":"119A","author":[{"given":"B.H.","family":"Graham","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1565"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04419.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2.2.142"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289473"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1990.tb00379.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000484724"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6289"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.711"},{"key":"e_1_2_6_10_1","first-page":"549","article-title":"Two male patients with ring Y: Definition of an interval in Yq contributing to Turner syndrome","volume":"36","author":"Tzancheva M","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(98)80089-0"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90230-F"}],"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.10147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:44:00Z","timestamp":1697618640000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,11]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,6]]}},"alternative-id":["10.1002\/ajmg.a.10147"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10147","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,11]]}}}