{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075893,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,4]]},"abstract":"<jats:p>A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.<\/jats:p>","DOI":"10.1136\/jmg.32.4.306","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"306-308","source":"Crossref","is-referenced-by-count":15,"title":["Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion."],"prefix":"10.1136","volume":"32","author":[{"given":"V P","family":"Prasher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Norman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Butler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V H","family":"Krishnan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"McMullan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,4,1]]},"reference":[{"key":"ref_1","first-page":"101","article-title":"Full trisomy 22 in a newborn infant","volume":"30","author":"Petersen, M.B.; Hansen, M.; Djernes, B.W.","year":"1987","unstructured":"Petersen MB, Hansen M, Djernes BW. 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Acta Paediatr 3tap (overseas","volume":"32","author":"Katafuchi, Y.; Hashino, K.; Maeno, Y.","year":"1990","unstructured":"Katafuchi Y, Hashino K, Maeno Y, et al. Partial trisomy 22 with Dandy-Walker malformation. Acta Paediatr 3tap (overseas edition) 1990;32:566-70."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/ajmg.1320360118","article-title":"Midtrimester diagnosis and anomalies in the dup(22q) syndrome","volume":"36","author":"Johnson, M.P.; Greb, A.; Goyert, G.","year":"1990","unstructured":"Johnson MP, Greb A, Goyert G, et al. Midtrimester diagnosis and anomalies in the dup(22q) syndrome. Am Med Genet 1990;36:94-6.","journal-title":"Am Med Genet"},{"key":"ref_10","article-title":"An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes","author":"Bloom, S.E.; Goodpasture, C.","year":"1976","unstructured":"Bloom SE, Goodpasture C. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet 1976;34:199.","journal-title":"Hum Genet"},{"issue":"3","key":"ref_11","first-page":"82","article-title":"Duplication of the segment ql2.2-qter of chromosome 22 due to paternal inversion","volume":"22","author":"Fujimato, A.; Wilson, M.G.; Townder, J.W.","year":"1983","unstructured":"Fujimato A, Wilson MG, Townder JW. Duplication of the segment ql2.2-qter of chromosome 22 due to paternal inversion 22 (pl3ql2.2). Hum Genet 1983;63:82-4.","journal-title":"Hum Genet"},{"key":"ref_12","first-page":"47","article-title":"The 22q distal trisomy syndrome in a recombinant child","volume":"31","author":"Rivera, H.; Garcia-Esquivel, L.; Romo, M.G.; Perez-Garcia, G.; Martinez, Y.; Martinez, R.","year":"1988","unstructured":"Rivera H, Garcia-Esquivel L, Romo MG, Perez-Garcia G, Martinez Y, Martinez R. The 22q distal trisomy syndrome in a recombinant child. 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