{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:02Z","timestamp":1760737202983,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,9]]},"DOI":"10.1136\/jmg.9.3.365","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"365-367","source":"Crossref","is-referenced-by-count":6,"title":["A double aneuploid mosaic: trisomy 13 and XXY."],"prefix":"10.1136","volume":"9","author":[{"given":"A J","family":"Ebbin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Chu Lim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Towner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1972,9,1]]},"reference":[{"issue":"695","key":"ref_1","article-title":"A new double aneuploid: XXY D trisomy","volume":"2","author":"Pergament, E.; Kadotani, T.","year":"1965","unstructured":"Pergament, E. and Kadotani, T. (1965). A new double aneuploid: XXY D trisomy. Lancet, 2,695.","journal-title":"Lancet"},{"key":"ref_2","article-title":"found trisomy D and XXY in a tissue culture from the limb-bud of an early spontaneous abortion. Although our patient is the first reported liveborn infant with trisomy 13 and an XXY sex chromosome complement, we are aware of another such infant through a personal","author":"Pergament; Kadotani","year":"1965","unstructured":"Pergament and Kadotani (1965) found trisomy D and XXY in a tissue culture from the limb-bud of an early spontaneous abortion. Although our patient is the first reported liveborn infant with trisomy 13 and an XXY sex chromosome complement, we are aware of another such infant through a personal"},{"key":"ref_3","article-title":"D group trisomy (13-15) was first described by Patau et al in 1960. Since then at least 126 cases with cytological confirmation have been reported","volume-title":"The phenotypic features have been tabulated and considerable variations noted","year":"1970","unstructured":"D group trisomy (13-15) was first described by Patau et al in 1960. Since then at least 126 cases with cytological confirmation have been reported (Taylor et al, 1970). The phenotypic features have been tabulated and considerable variations noted."},{"key":"ref_4","article-title":"In some of these cases the extra chromosome was identified by autoradiographic techniques","volume-title":"and recently in 2 cases by quinacrine fluorescence (D. A. Miller et al, 1971) as a No. 13. The rest have been presumed to be 13 trisomy because of the clinical similarity of the phenotype. A syndrome associated with trisomy of chromosome 14 has not been described. We report here a case trisomic for a large part of chromosome 14 identified by quinacrine fluorescence","year":"1965","unstructured":"In some of these cases the extra chromosome was identified by autoradiographic techniques (Giannelli, 1965) and recently in 2 cases by quinacrine fluorescence (D. A. Miller et al, 1971) as a No. 13. The rest have been presumed to be 13 trisomy because of the clinical similarity of the phenotype. A syndrome associated with trisomy of chromosome 14 has not been described. We report here a case trisomic for a large part of chromosome 14 identified by quinacrine fluorescence."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.9.3.365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:25:55Z","timestamp":1760736355000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.9.3.365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1972,9]]},"references-count":4,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1972,9,1]]},"published-print":{"date-parts":[[1972,9]]}},"alternative-id":["10.1136\/jmg.9.3.365"],"URL":"https:\/\/doi.org\/10.1136\/jmg.9.3.365","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1972,9]]}}}