{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:51:31Z","timestamp":1775307091288,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8158,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45, XX, \u221215, \u221215, +t(15q;15q) (mother) and 46,XY, \u2212 15, + r(15q;15q)mat (15q13 \u2192 cen \u2192 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen \u2192 q13. Data from enzyme assays suggest that this duplicated region carries the \u03b1\u2010mannosidase gene.<\/jats:p>","DOI":"10.1002\/ajmg.1320140211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:23Z","timestamp":1118504063000},"page":"307-314","source":"Crossref","is-referenced-by-count":18,"title":["A boy with ring chromosome 15 derived from a t(15q;15q) robertsonian translocation in the mother: Cytogenetic and biochemical findings"],"prefix":"10.1002","volume":"14","author":[{"given":"Giovanni","family":"Neri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Pelino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato","family":"Bova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna","family":"Tedeschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Serra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John 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