{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:45:14Z","timestamp":1773791114079,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[1965,1,1]],"date-time":"1965-01-01T00:00:00Z","timestamp":-157766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1965,1,1]],"date-time":"1965-01-01T00:00:00Z","timestamp":-157766400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[1965]]},"abstract":"<jats:p>The chromosome findings in a series of 173 Down\u2019s syndrome or presumptive Down\u2019s syndrome index patients, and a further 3 5 pairs of parents of Down\u2019s syndrome index cases, are given. One hundred and forty-four index cases had primary G&lt;sub&gt;21&lt;\/sub&gt; trisomy; six were interchange trisomics, six were mosaics, and one was a chromatin positive male with XXY sex chromosomes and primary G&lt;sub&gt;21&lt;\/sub&gt; trisomy. Sixteen index patients whose diagnosis could not be clinically confirmed, were found to have normal chromosomes. The 35 pairs of parents all had normal chromosomes. In seven families (three index patients with primary G&lt;sub&gt;21&lt;\/sub&gt; trisomy, two with normal chromosomes and two index patients not studied) minor morphological chromosome anomalies were observed. The relevance of this data to the causal association of Down\u2019s syndrome and G&lt;sub&gt;21&lt;\/sub&gt; trisomy, the frequency of mosaicism, double trisomy and association with other chromosome anomalies, is discussed.<\/jats:p>","DOI":"10.1159\/000129853","type":"journal-article","created":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T09:35:09Z","timestamp":1209548109000},"page":"171-185","source":"Crossref","is-referenced-by-count":77,"title":["Cytogenetics of Down\u2019s Syndrome (Mongolism) I. Data on a Consecutive Series of Patients Referred for Genetic Counselling and Diagnosis"],"prefix":"10.1159","volume":"4","author":[{"given":"J.L.","family":"Hamerton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Giannelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.E.","family":"Polani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,4,29]]},"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/129853","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/129853","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:33:28Z","timestamp":1745458408000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000129853"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1965]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2004,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000129853","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1965]]}}}