{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:29Z","timestamp":1760747609907,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,12]]},"abstract":"<jats:p>A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.<\/jats:p>","DOI":"10.1136\/jmg.18.6.473","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"473-476","source":"Crossref","is-referenced-by-count":11,"title":["Unilateral radial aplasia and trisomy 22 mosaicism."],"prefix":"10.1136","volume":"18","author":[{"given":"F","family":"Dulitzky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Shabtal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Zlotogora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Halbrecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Elian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1136\/jmg.16.3.232","article-title":"Triple mosaicism 45, XY, -1 8\/46, XY\/47, XY, + 18","volume":"16","year":"1979","unstructured":"Triple mosaicism 45,XY, -1 8\/46,XY\/47,XY, + 18. J Med Genet 1979;16:232-4.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1159\/000130782","article-title":"Ag-staining of nucleolus organizer regions of chromosomes after A-, C-, G-, or R-handing procedures","volume":"18","author":"Tantravahi, R.; Miller, D.A.; Miller, O.J.","year":"1977","unstructured":"Tantravahi R, Miller DA, Miller OJ. Ag-staining of nucleolus organizer regions of chromosomes after A-, C-, G-, or R-handing procedures. Cytogenet Cell Genet 1977;18:364-9.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1399-0004.1978.tb02119.x","article-title":"Complete trisomy 22","volume":"14","author":"Shokeir, M.H.K.","year":"1978","unstructured":"Shokeir MHK. Complete trisomy 22. Clin Genet 1978;14: 139-46.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.14.3.224","article-title":"Trisomy 22 mosaicism","volume":"14","author":"Mollica, F.; Sorge, G.; Pavone, L.","year":"1977","unstructured":"Mollica F, Sorge G, Pavone L. Trisomy 22 mosaicism. J Med Genet 1977;14:224-5.","journal-title":"J Med Genet"},{"issue":"85","key":"ref_5","first-page":"85","article-title":"Trisomy 22 mosaicism: part of the differential diagnosis of Noonan and Turner's syndrome phenotype","volume":"29","author":"Pagon, R.A.; Hall, J.G.; Hoehn, H.","year":"1977","unstructured":"Pagon RA, Hall JG, Hoehn H. Trisomy 22 mosaicism: part of the differential diagnosis of Noonan and Turner's syndrome phenotype. Am J Hum Genet 1977;29:85A. 6 Pagon RA, Hall JG, Davenport S, Norwood TH, Hoehn H. Cytogenetic abnormalities in fibroblast cultures from dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 1977;29:85A. 7 Purvis-Smith S, Wertelecki W, Sergovich F. Trisomy 22 mosaicism and body asymmetry. In: Abstracts of the","journal-title":"Am J Hum Genet; Cytogenetic abnormalities in fibroblast cultures from dysmorphic patients with normal lymphocyte chromosomes"},{"key":"ref_6","first-page":"148","article-title":"t\/i International Congress of Human Genetics, Mexico, 10-15","volume":"1976","year":"1976","unstructured":"t\/i International Congress of Human Genetics, Mexico, 10-15 October 1976. Amsterdam: Excerpta Medica, 1976:148.","journal-title":"Amsterdam: Excerpta Medica"},{"issue":"95","key":"ref_7","first-page":"9","article-title":"Maternal bisatellited chromosome No 22 associated with the trisomy 22 syndrome","volume":"29","author":"Schmidt, L.; Hepple, L.; Nitowsky, H.","year":"1977","unstructured":"Schmidt L, Hepple L, Nitowsky H. Maternal bisatellited chromosome No 22 associated with the trisomy 22 syndrome. Am J Hum Genet 1977; 29:95A. 9 Trabalza N, Furbetta M, Rosi G, Donti E, Venti G, Migliorini Bruschelli G. Etude d'un sujet avec caryotype 46,XY,22p +. J Genet Hum 1978;26:177-84.","journal-title":"Am J Hum Genet; Etude d'un sujet avec caryotype 46, XY,22p"},{"key":"ref_8","first-page":"184","article-title":"Disappearing mosaicism","volume":"50","author":"PH, La Marche; AB, Heisler; NS, Kronemer","year":"1967","unstructured":"La Marche PH, Heisler AB, Kronemer NS. Disappearing mosaicism. Rhode Island MedJ 1967;50:184-7.","journal-title":"Rhode Island MedJ"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/ajcp\/49.4.527","article-title":"Group E triple cell line mosaicism, with Sprengel's deformity and other asymmetrical congenital abnormalities","volume":"49","author":"Backus, J.A.; Darien, G.C.","year":"1968","unstructured":"Backus JA, Darien GC. Group E triple cell line mosaicism, with Sprengel's deformity and other asymmetrical congenital abnormalities. Am J Clin Pathol 1968;49: 527-34.","journal-title":"Am J Clin Pathol"},{"issue":"18","key":"ref_10","first-page":"45","article-title":"XX,18-chez un enfant avec syndrome de Edwards","volume":"47","author":"Bricarelli, F.F.; Gimelli, F.B.; Barrone, C.","year":"1971","unstructured":"Bricarelli FF, Gimelli FB, Barrone C. Mosaique 47,XX,18+\/46,XX\/45,XX,18-chez un enfant avec syndrome de Edwards. Ann Genet (Paris) 1971;14:229-33.","journal-title":"Mosaique"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1159\/000152488","article-title":"Unilateral congenital malformations with chromosome aberration","volume":"22","author":"Schuler, D.; Ferenczi, I.; Gorgenyi, A.; Dobos, M.; Fekete, G.; Ruzicska, R.","year":"1972","unstructured":"Schuler D, Ferenczi I, Gorgenyi A, Dobos M, Fekete G, Ruzicska R. Unilateral congenital malformations with chromosome aberration. Hum Hered 1972;22:198-203.","journal-title":"Hum Hered"},{"article-title":"Structural studies performed by Professor Tentori (Laboratorio di Patologia non Infettiva, Istituto Received for publication","year":"1981","key":"ref_12","unstructured":"Structural studies performed by Professor Tentori (Laboratorio di Patologia non Infettiva, Istituto Received for publication 13 February 1981"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.6.473","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:18:45Z","timestamp":1760725125000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.6.473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,12]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1981,12,1]]},"published-print":{"date-parts":[[1981,12]]}},"alternative-id":["10.1136\/jmg.18.6.473"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.6.473","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,12]]}}}