{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:21:15Z","timestamp":1787163675637,"version":"build-2736575974"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,4]]},"abstract":"<jats:p>A child with an unbalanced translocation resulting in monosomy for chromosomes 22 (q11----pter) and 3(p25----pter) is described. Although no immunological dysfunction could be demonstrated, the abnormalities found are similar to those seen in the di George syndrome which has been associated with monosomy for the same region of chromosome 22.<\/jats:p>","DOI":"10.1136\/jmg.24.4.225","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"225-227","source":"Crossref","is-referenced-by-count":27,"title":["Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11)."],"prefix":"10.1136","volume":"24","author":[{"given":"M J","family":"Faed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J S","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J I","family":"Cater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Bose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M M","family":"Madlom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/S0022-3476(65)81796-6","article-title":"Discussion following Cooper MD. Peterson RDA, Good RA. New concept of cellular basis of immunity","volume":"67","author":"AM, Di George","year":"1965","unstructured":"Di George AM. Discussion following Cooper MD. Peterson RDA, Good RA. New concept of cellular basis of immunity. J Pediatr 1965;67:907-8.","journal-title":"J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1161\/01.CIR.46.1.165","article-title":"Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch","volume":"46","author":"Freedom, R.M.; Rosen, F.S.; Nadas, A.S.","year":"1972","unstructured":"Freedom RM, Rosen FS, Nadas AS. Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch. Circulation 1972;46:165-72.","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","article-title":"The spectrum of the di George syndrome","volume":"94","author":"Conley, M.E.; Beckwith, J.B.; Mancer, J.F.K.; Tenckhoff, L.","year":"1979","unstructured":"Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L. The spectrum of the di George syndrome. J Pediatr 1979;94:883-90.","journal-title":"J Pediatr"},{"key":"ref_4","first-page":"\"1042","article-title":"A deletion in chromosome 22 can cause di George syndrome","volume":"81","author":"Lischner, H.W.","year":"1972","unstructured":"Lischner HW. Di George syndrome(s)L J Pediatr 1972;81:1042-4. de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause di George syndrome. Hum Genet 1981;57:253-6.","journal-title":"Di George syndrome(s)L J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0022-3476(82)80116-9","article-title":"The association of di George anomalad with partial monosomy of chromosome 22","volume":"101","author":"Kelley, R.I.; Zackai, E.H.; Emanuel, B.S.; Kistenmacher, M.; Greenberg, F.; Punnett, H.H.","year":"1982","unstructured":"Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of di George anomalad with partial monosomy of chromosome 22. J Pediair 1982;101:197-200.","journal-title":"J Pediair"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/BF00291554","article-title":"Familial di George syndrome and associated partial monosomy of chromosomes 22","volume":"65","author":"Greenberg, F.; Crowder, W.E.; Paschall, V.; Colon-Linares, J.; Lubianski, B.; Ledbetter, D.H.","year":"1984","unstructured":"Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. Familial di George syndrome and associated partial monosomy of chromosomes 22. Hum Genet 1984;65:317-9.","journal-title":"Hum Genet"},{"key":"ref_7","first-page":"699","article-title":"Chromosome 3 duplication q21-qter deletion p25-pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21)","volume":"27","author":"Allderdice, P.W.; Browne, N.; Murphy, D.P.","year":"1975","unstructured":"Allderdice PW, Browne N, Murphy DP. Chromosome 3 duplication q21-qter deletion p25-pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). Am J Hum Genet 1975;27:699-718.","journal-title":"Am J Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.20.5.383","article-title":"A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3","volume":"20","author":"Shawe, D.J.; Fear, C.; Appleyard, W.J.","year":"1983","unstructured":"Shawe DJ, Fear C, Appleyard WJ. A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23). J Med Genet 1983;20:383-5.","journal-title":"J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1136\/jmg.19.1.71","article-title":"A second patient with partial deletion of the short arm of chromosome 3: karyotype 46, XY","volume":"19","author":"Higginbottom, M.C.; Mascarello, J.T.; Hassin, H.; McCord, W.K.","year":"1982","unstructured":"Higginbottom MC, Mascarello JT, Hassin H, McCord WK. A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,der(3)(p25). J Med Genet 1982;19:71-3.","journal-title":"J Med Genet"},{"key":"ref_10","article-title":"There were no neonatal problems but the proband was slower to gain weight than her healthy sister. At Received for publication","volume-title":"Accepted for","year":"1985","unstructured":"There were no neonatal problems but the proband was slower to gain weight than her healthy sister. At Received for publication 20 November 1985. Accepted for publication 29 November 1985."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.4.225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:37:38Z","timestamp":1760769458000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.4.225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1987,4,1]]},"published-print":{"date-parts":[[1987,4]]}},"alternative-id":["10.1136\/jmg.24.4.225"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.4.225","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,4]]}}}