{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:09Z","timestamp":1760906949144,"version":"build-2065373602"},"reference-count":29,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,10]]},"abstract":"<jats:p>A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical syndromes based on different breakpoints on 13q nor correlate the severity of symptoms with instability of the ring.<\/jats:p>","DOI":"10.1136\/jmg.29.10.704","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"704-708","source":"Crossref","is-referenced-by-count":18,"title":["Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q."],"prefix":"10.1136","volume":"29","author":[{"given":"C A","family":"Brandt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Hertz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M B","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Noer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mikkelsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,10,1]]},"reference":[{"key":"ref_1","unstructured":"2700 2350 2160 NI 1600 2350 2155 1950 NI 2100 2660","article-title":"NI 1600 2350 2155 1950 NI 2100 2660"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/BF00291324","article-title":"The ring chromosome 13 syndrome","volume":"61","author":"Martin, N.J.; Harvey, P.J.; Pearn, J.H.","year":"1982","unstructured":"1850 2220 1680 1800 1900","journal-title":"Hum Genet"},{"key":"ref_3","first-page":"79","article-title":"Le phenotype [Dr] etude de trois cas de chromosomes D en anneau","volume":"11","author":"Lejeune, J.; Lafourcade, J.; Berger, R.","year":"1968","unstructured":"Martin NJ, Harvey PJ, Pearn JH. 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