{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:23:45Z","timestamp":1760189025831,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,8]]},"abstract":"<jats:p>We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.<\/jats:p>","DOI":"10.1136\/jmg.29.8.586","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"586-588","source":"Crossref","is-referenced-by-count":18,"title":["Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism."],"prefix":"10.1136","volume":"29","author":[{"given":"M M","family":"Lai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P N","family":"Scriven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Ball","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,8,1]]},"reference":[{"key":"ref_1","first-page":"149","article-title":"Syndromes r&ciproques par duplication deficience resultant d'une translocation maternelle t(10; 18)(pl2; q22)","volume":"3","author":"Rethore, M.O.; Villain, E.; Lejeune, J.","year":"1985","unstructured":"Rethore MO, Villain E, Lejeune J. Syndromes r&ciproques par duplication deficience resultant d'une translocation maternelle t(10;18)(pl2;q22). Ann Genet (Paris) 1985; 3:149-53."},{"key":"ref_2","first-page":"173","article-title":"Partial monosomy 10p syndrome","volume":"28","author":"Koenig, R.; Kessel, E.; Schoenberger, W.","year":"1985","unstructured":"Koenig R, Kessel E, Schoenberger W. Partial monosomy 10p syndrome. Ann Genet (Paris) 1985;28:173-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1136\/jmg.20.2.107","article-title":"Partial monosomy of chromosome 10 short arms","volume":"20","author":"Gencik, A.; Bronniman, U.; Tobler, R.; Auf der Maur, P.","year":"1983","unstructured":"Gencik A, Bronniman U, Tobler R, Auf der Maur P. Partial monosomy of chromosome 10 short arms. J Med Genet 1983;20:107-1 1.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/BF00291766","article-title":"Partial trisomy 5q. Three different phenotypes depending on different duplication segments","volume":"55","author":"Rodewald, A.; Zank, M.; Gey, E.O.; Zang, K.D.","year":"1980","unstructured":"Rodewald A, Zank M, Gey EO, Zang KD. Partial trisomy 5q. Three different phenotypes depending on different duplication segments. Hum Genet 1980;55:191-8.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1136\/adc.55.6.474","article-title":"A child trisomic for the distal part of chromosome 14q","volume":"55","author":"Bridgman, G.; Buter, L.J.","year":"1980","unstructured":"Bridgman G, Buter LJ. A child trisomic for the distal part of chromosome 14q. Arch Dis Child 1980;55:474-7.","journal-title":"Arch Dis Child"},{"key":"ref_6","first-page":"77","article-title":"Monosomie partielle du bras court d'un chromosome 10, associee a une syndrome de Rieger et a un deficit immunitaire partiel, type Di George","volume":"31","author":"Herve, J.; Warnet, J.F.; Jeanneau-Bellego, E.; Portnoi, M.F.; Taillemitte, J.L.; Herve, F.","year":"1984","unstructured":"Herve J, Warnet JF, Jeanneau-Bellego E, Portnoi MF, Taillemitte JL, Herve F. Monosomie partielle du bras court d'un chromosome 10, associee a une syndrome de Rieger et a un deficit immunitaire partiel, type Di George. Ann Pediatr 1984;31:77-80."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.1320390220","article-title":"Di George anomaly associated with 1Op deletion","volume":"39","year":"1991","unstructured":"Monaco G, Pignata C, Rossi E, Mascellaro 0, Cocozza S, Ciccimarra F. Di George anomaly associated with 1Op deletion. Am 7 Med Genet 1991;39:215-6.","journal-title":"Am 7 Med Genet"},{"key":"ref_8","first-page":"605","article-title":"Cytogenetic findings in prospective series of patients with Di George anomaly","volume":"43","author":"Greenberg, F.; Elder, F.F.B.; Haffner, P.; Northrup, H.; Ledbetter, D.H.","year":"1988","unstructured":"Greenberg F, Elder FFB, Haffner P, Northrup H, Ledbetter DH. Cytogenetic findings in prospective series of patients with Di George anomaly. Am 7 Hum Genet 1988;43: 605-11.","journal-title":"Am 7 Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.8.586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:46:49Z","timestamp":1759726009000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.8.586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,8]]},"references-count":8,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1992,8,1]]},"published-print":{"date-parts":[[1992,8]]}},"alternative-id":["10.1136\/jmg.29.8.586"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.8.586","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,8]]}}}