{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:19:11Z","timestamp":1791141551312,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,12]],"date-time":"2004-02-12T00:00:00Z","timestamp":1076544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondo Investigacion Sanitaria (Madrid) Project","award":["PI020258"],"award-info":[{"award-number":["PI020258"]}]},{"name":"Generalitat de Catalunya (Project)","award":["2001SGR 00201"],"award-info":[{"award-number":["2001SGR 00201"]}]},{"name":"The EU (to TL)","award":["ICA2-CT-2000-10012"],"award-info":[{"award-number":["ICA2-CT-2000-10012"]}]},{"name":"The Dr. Robert Pfleger-Stiftung (to TL)"},{"name":"The Generalitat de Catalunya (grant to MCP)","award":["2001FI00468"],"award-info":[{"award-number":["2001FI00468"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y \u03b1\u2010satellite, Y \u03b1\u2010satellite III, non\u2010\u03b1\u2010satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA\u2010tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter\u2192p11.32::p11.32\u2192qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32 \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30027","type":"journal-article","created":{"date-parts":[[2004,5,13]],"date-time":"2004-05-13T16:01:11Z","timestamp":1084464071000},"page":"302-306","source":"Crossref","is-referenced-by-count":25,"title":["FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male"],"prefix":"10.1002","volume":"127A","author":[{"given":"M.","family":"Codina\u2010Pascual","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Oliver\u2010Bonet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Starke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Guti\u00e9rrez\u2010Mateo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.F.","family":"S\u00e1nchez\u2010Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Arango","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Egozcue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Benet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1994.tb02455.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/scbi.2000.0374"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982733"},{"key":"e_1_2_6_5_1","first-page":"77","article-title":"Banding patterns of the chromosomes of man and the chimpanzee","volume":"18","author":"Egozcue J","year":"1973","journal-title":"Humangenetik"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0767-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"4429","DOI":"10.1242\/jcs.114.24.4429","article-title":"Alteration of nuclear architecture in male germ cells of chromosomally derived subfertile mice","volume":"114","author":"Garagna S","year":"2001","journal-title":"J Cell Sci"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197696"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.144.4.589"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530204"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1359641"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01552866"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.76"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1093\/genetics\/26.2.234","article-title":"The stability of broken ends of chromosomes in Zea mays","volume":"26","author":"Mc Clintock B","year":"1941","journal-title":"Genetics"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200654"},{"key":"e_1_2_6_16_1","first-page":"279","article-title":"A molecular and FISH analysis of structurally abnormal Y chromosome in patients with Turner syndrome","volume":"36","author":"Robinson DO","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273104"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00360407"},{"key":"e_1_2_6_19_1","first-page":"83","article-title":"Apparently isodicentric but functionally monocentric X chromosome in man","volume":"26","author":"Therman E","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214200"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000066605"},{"key":"e_1_2_6_22_1","first-page":"154","article-title":"Molecular definition of breakpoints associated with human Xq isochromosomes: Implications for mechanisms of formation","volume":"58","author":"Wolff DJ","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130140"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/3.8.709"}],"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.30027","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T23:08:28Z","timestamp":1700262508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,12]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30027"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30027","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,12]]}}}