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In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, \u201012. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10044","type":"journal-article","created":{"date-parts":[[2003,2,24]],"date-time":"2003-02-24T14:04:51Z","timestamp":1046095491000},"page":"275-277","source":"Crossref","is-referenced-by-count":11,"title":["Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature"],"prefix":"10.1002","volume":"117A","author":[{"given":"Ramesh C.","family":"Parmar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamta N.","family":"Muranjan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kotvaliwale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.A.","family":"Bharucha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,1,23]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"55","article-title":"A new case of partial monosomy of chromosome 12,del (12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B","volume":"28","author":"Boilly\u2010Dartigalongue B","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S"},{"key":"e_1_2_4_4_1","first-page":"195","volume-title":"The child with a handicap","author":"Hall DMB","year":"1984"},{"key":"e_1_2_4_5_1","first-page":"209","article-title":"Chromosome banding technique in clinical cytogenetics. 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