{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074980,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:p>We report a boy with multiple congenital anomalies compatible with trisomy for the distal region of the long arm of chromosome 10 and a male karyotype with one 18p+. In situ hybridisation with a cDNA for ornithine aminotransferase (OAT), whose locus maps to 10q26, confirmed the clinical suspicion of distal trisomy 10q. Subterminal localisation of the labelling signals on chromosome 10 and on the der(18) indicated the localisation of the OAT locus in the proximal part of 10q26. Two clusters of labelling signals were also found on the pericentromeric and proximal portion of the X chromosome short arm, thus confirming the presence in this region of two non-adjacent OAT pseudogenes. The phenotypic similarities of this patient to previously reported cases provide further support for the delineation of trisomy 10qter as a specific, clinically recognisable syndrome.<\/jats:p>","DOI":"10.1136\/jmg.30.7.601","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"601-603","source":"Crossref","is-referenced-by-count":8,"title":["Trisomy 10qter confirmed by in situ hybridisation."],"prefix":"10.1136","volume":"30","author":[{"given":"V","family":"Briscioli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Floridia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Selicorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Lalatta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.29.2.103","article-title":"Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding","volume":"29","author":"Jacobs, P.A.; Browne, C.; Gregson, N.; Joyce, C.; White, H.","year":"1992","unstructured":"Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992;29:103-8.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"93","article-title":"High resolution R-and G-banding on the same preparation","volume":"57","author":"Dutrillaux, B.; Viegas-Pequignot, E.","year":"1981","unstructured":"Dutrillaux B, Viegas-Pequignot E. High resolution R-and G-banding on the same preparation. Hum Genet 1981;57:93-5.","journal-title":"Hum Genet"},{"key":"ref_3","first-page":"1037","article-title":"Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xpll.2","volume":"28","author":"Barrett, D.J.; Bateman, B.; Sparkes, R.S.; Mohandas, T.; Klisak, I.; Inana, G.","year":"1987","unstructured":"Barrett DJ, Bateman B, Sparkes RS, Mohandas T, Klisak I, Inana G. Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xpll.2. Invest Ophthalmol Vis Sci 1987;28:1037-42.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/0888-7543(91)90512-D","article-title":"Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm","volume":"10","author":"Lafreniere, R.G.; Geraghty, M.T.; Valle, D.; Shows, T.B.; Willard, H.F.","year":"1991","unstructured":"Lafreniere RG, Geraghty MT, Valle D, Shows TB, Willard HF. Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm. Genomics 1991;10:276-9.","journal-title":"Genomics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"14288","DOI":"10.1016\/S0021-9258(18)68219-5","article-title":"Human ornithineb-aminotransferase. cDNA cloning and analysis of the structural gene","volume":"263","author":"Mitchell, G.A.; Looney, J.E.; Brody, L.C.","year":"1988","unstructured":"Mitchell GA, Looney JE, Brody LC, et al. Human ornithineb-aminotransferase. cDNA cloning and analysis of the structural gene. Jf Biol Chem 1988;263:14288-95.","journal-title":"Jf Biol Chem"},{"key":"ref_6","first-page":"1","article-title":"Counterstain-enhanced chromosome banding","volume":"57","author":"Schweizer, D.","year":"1981","unstructured":"Schweizer D. Counterstain-enhanced chromosome banding. Hum Genet 1981;57:1-14.","journal-title":"Hum Genet"},{"key":"ref_7","first-page":"79","article-title":"Partial trisomy 10q in three unrelated patients","volume":"26","author":"Taysi, K.; Yang, V.; Monaghan, N.; Beraha, N.","year":"1983","unstructured":"Taysi K, Yang V, Monaghan N, Beraha N. Partial trisomy 10q in three unrelated patients. Ann Genet (Paris) 1983;26:79-85.","journal-title":"Ann Genet (Paris)"},{"key":"ref_8","first-page":"407","article-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1984:407-9."},{"key":"ref_9","first-page":"289","article-title":"Trisomy of the distal third of the long arm of chromosome 10","volume":"30","author":"Forabosco, A.; Bernasconi, S.; Giovannelli, G.; Dutrillaux, B.","year":"1975","unstructured":"Forabosco A, Bernasconi S, Giovannelli G, Dutrillaux B. Trisomy of the distal third of the long arm of chromosome 10. Helv Paediatr Acta 1975;30:289-95.","journal-title":"Helv Paediatr Acta"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.7.601","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:15:58Z","timestamp":1760728558000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.7.601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":9,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1993,7,1]]},"published-print":{"date-parts":[[1993,7]]}},"alternative-id":["10.1136\/jmg.30.7.601"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.7.601","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}