{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:10Z","timestamp":1760739010384,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:p>Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis.<\/jats:p>","DOI":"10.1136\/jmg.20.2.107","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"107-111","source":"Crossref","is-referenced-by-count":14,"title":["Partial monosomy of chromosome 10 short arms."],"prefix":"10.1136","volume":"20","author":[{"given":"A","family":"Genc\u00edk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U","family":"Br\u00f6nniman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Tobler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Auf der Maur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1001\/archpedi.1970.02100050074017","article-title":"C-group chromosome abnormality (? lop-)","volume":"119","author":"Elliott, D.; Thomas, G.H.; Condron, C.J.; Khuri, N.; Richardson, F.","year":"1970","unstructured":"Elliott D, Thomas GH, Condron CJ, Khuri N, Richardson F. C-group chromosome abnormality (? lop-). Am J Dis Child 1970; 119:72-3.","journal-title":"Am J Dis Child"},{"key":"ref_2","first-page":"343","article-title":"Del (lO)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies","volume":"26","author":"Francke, U.; Kernahan, C.; Ch, Bradshae","year":"1975","unstructured":"Francke U, Kernahan C, Bradshae Ch. Del (lO)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. Hum Genet 1975; 26:343-51.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1136\/jmg.12.1.99","article-title":"Deletion of the short arm ofchromosome No 10","volume":"12","author":"Shokeir, M.H.K.; Ray, M.; Hamerton, J.L.; Bauder, F.; O'Brien, H.","year":"1975","unstructured":"Shokeir MHK, Ray M, Hamerton JL, Bauder F, O'Brien H. Deletion of the short arm ofchromosome No 10. 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Eur J Pediatr 1981;137:243-6.","journal-title":"Eur J Pediatr"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1136\/jmg.14.1.61","article-title":"Physical retardation associated with ring chromosome mosaicism: 46, XX, r(10)\/45, XX,10-","volume":"14","author":"Lansky, S.; Daniel, W.; Fleiszar, K.","year":"1977","unstructured":"Lansky S, Daniel W, Fleiszar K. Physical retardation associated with ring chromosome mosaicism: 46,XX, r(10)\/45, XX,10-. JMed Genet 1977; 14:61-3.","journal-title":"JMed Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00293602","article-title":"Malformation syndrome associated with a ring 10 chromosome and a translocated lOq\/19 chromosome","volume":"43","author":"Fryns, J.P.; De Boeck, K.; Jaeken, J.; van den Berghe, H.","year":"1978","unstructured":"Fryns JP, De Boeck K, Jaeken J, van den Berghe H. Malformation syndrome associated with a ring 10 chromosome and a translocated lOq\/19 chromosome. Hum Genet 1978;43:239-44.","journal-title":"Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/BF00278844","article-title":"Ring 10 chromosome: 46, XX, rIO (p15q26)","volume":"43","author":"Sparkes, R.S.; Ling, S.M.; Muller, H.","year":"1978","unstructured":"Sparkes RS, Ling SM, Muller H. Ring 10 chromosome: 46, XX, rIO (p15q26). Hum Genet 1978; 43:341-5.","journal-title":"Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00287164","article-title":"Ring chromosome 10 associated with multiple congenital malformations","volume":"51","author":"Simoni, G.; Rossella, F.; Dalpra, L.; Visconti, G.; PiriaSchwarz, C.","year":"1979","unstructured":"Simoni G, Rossella F, Dalpra L, Visconti G, PiriaSchwarz C. Ring chromosome 10 associated with multiple congenital malformations. 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