{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:40:11Z","timestamp":1760722811930,"version":"build-2065373602"},"reference-count":2,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,8]]},"abstract":"<jats:p>We report a case with non-mosaic Yq-, missing the fluorescent segment, and detected as a fetus studied for advanced maternal age. The father had a Y chromosome of average size and paternity was established wih a plausibility of 97.7% by HLA and erythrocyte antigen typing. The child had a normal male antigen typing. The child had a normal male phenotype at delivery and developmental milestones were normal through the first year of life. The Yq- showed no mitotic instability since it was retained in foreskin culture for its in vitro lifetime of 60 population doublings.<\/jats:p>","DOI":"10.1136\/jmg.17.4.314","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"314-316","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal diagnosis of a de novo non-fluorescent Y chromosome."],"prefix":"10.1136","volume":"17","author":[{"given":"J H","family":"Priest","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A T","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P M","family":"Fernhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Reidy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Whitsett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,8,1]]},"reference":[{"key":"ref_1","first-page":"317","article-title":"Translocations causing nonfluorescent Y chromosomes in human XO\/XY mosaics","volume":"68","author":"Caspersson, T.; Hulten, M.; Jonasson, J.; Lindsten, J.; Therkelsen, A.; Zech, L.","year":"1971","unstructured":"Caspersson T, Hulten M, Jonasson J, Lindsten J, Therkelsen A, Zech L. Translocations causing nonfluorescent Y chromosomes in human XO\/XY mosaics. Hereditas 1971;68:317-24.","journal-title":"Hereditas"},{"key":"ref_2","article-title":"More than 70 cases of 13qsyndrome have been reported. They include both those with a chromosome 13 with a partial deletion of the long arm","volume-title":"3q-), and those with a ring chromosome 1 3[r(I 3)].1 2 However, there has been no instance Received for publication","year":"1979","unstructured":"More than 70 cases of 13qsyndrome have been reported. They include both those with a chromosome 13 with a partial deletion of the long arm (1 3q-), and those with a ring chromosome 1 3[r(I 3)].1 2 However, there has been no instance Received for publication 8 October 1979"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.4.314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:02:33Z","timestamp":1760720553000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.4.314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,8]]},"references-count":2,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1980,8,1]]},"published-print":{"date-parts":[[1980,8]]}},"alternative-id":["10.1136\/jmg.17.4.314"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.4.314","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,8]]}}}