{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T22:54:07Z","timestamp":1777762447326,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,5,2]],"date-time":"2008-05-02T00:00:00Z","timestamp":1209686400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,5,2]],"date-time":"2008-05-02T00:00:00Z","timestamp":1209686400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Cell Genet"],"abstract":"<jats:p>Two males with apparently identical rings of chromosome 7 and very different phenotypic features are presented. Patient 1 is severely retarded, has short stature, microcephaly, craniosynostosis, unilateral proptosis, ptosis, and microcornea, small phallus, first-degree hypospadias, and undescended testes. Patient 2 is of normal intelligence, and his only abnormalities are short stature and a small head. Study of lymphocytes at metaphase showed the same proportion of cells with the ring, 46, XY, r(7), and those without a ring, 45, XY,-7, in each case. Quinacrine fluorescence and Giemsa banding techniques showed all the bands of chromosome 7 to be present, suggesting little material missing as a result of ring formation. A similar degree of instability of the ring in each case was indicated by the frequency of abnormal cells at anaphase and telophase.<\/jats:p>","DOI":"10.1159\/000130436","type":"journal-article","created":{"date-parts":[[2008,5,6]],"date-time":"2008-05-06T10:30:07Z","timestamp":1210069807000},"page":"40-48","source":"Crossref","is-referenced-by-count":55,"title":["Ring chromosome 7 with variable phenotypic expression"],"prefix":"10.1159","author":[{"given":"Elaine H.","family":"Zackai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.R.","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,5,2]]},"container-title":["Cytogenetics and Cell Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/130436","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000130436","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:29:24Z","timestamp":1777472964000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000130436"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,2]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000130436","archive":["Portico"],"relation":{},"ISSN":["0301-0171","1421-9816"],"issn-type":[{"value":"0301-0171","type":"print"},{"value":"1421-9816","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,2]]}}}