{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:57Z","timestamp":1761718077570,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,9]]},"abstract":"<jats:p>A 3 1\/2 year old girl was evaluated because of developmental delay. Short stature was evident with height between the 3rd and 10th centiles, while weight and head circumference were on the 50th centile. Dysmorphic features consisted of a high bossed forehead, pointed short ear lobes, small nose, bilateral convergent strabismus, left simian crease, a gap between the first and second toes bilaterally, mild clinodactyly, and a broad, barrel shaped thorax. Cytogenetic investigations showed an unbalanced karyotype, 46,XX,10q+, which was de novo in origin. Fluorescence in situ hybridisation (FISH) using three library probes (from chromosomes 10, 19, and 19q) and a YAC probe (from 10q telomere) showed that the additional material on 10q was derived from chromosome 19q. The patient had an unbalanced translocation, 46,XX,-10,+der(10)t(10;19)(q26.3; q13.3), which resulted in distal trisomy 19q. Few other cases of proven distal trisomy 19q are available for comparison of clinical features.<\/jats:p>","DOI":"10.1136\/jmg.33.9.795","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"795-797","source":"Crossref","is-referenced-by-count":14,"title":["A 3 1\/2 year old girl with distal trisomy 19q defined by FISH."],"prefix":"10.1136","volume":"33","author":[{"given":"C","family":"James","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Jauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Robson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Watson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00216136","article-title":"The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting","volume":"92","author":"Ohta, T.; Tohma, T.; Soejima, H.","year":"1993","unstructured":"Ohta T, Tohma T, Soejima H, et al. The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum Genet 1993;92:1-5.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/BF00420933","article-title":"A strategy for the characterization of minute chromosome rearrangements using multiple colour fluorescence in situ hybridisation with chromosome-specific DNA libraries and YAC clones","volume":"92","author":"Popp, S.; Jauch, A.; Schindler, D.","year":"1993","unstructured":"Popp S, Jauch A, Schindler D, et al. A strategy for the characterization of minute chromosome rearrangements using multiple colour fluorescence in situ hybridisation with chromosome-specific DNA libraries and YAC clones. 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Hum Genet 1995; 96:345-9.","journal-title":"Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/ng0196-10","article-title":"Chromosome arm painting probes","volume":"12","author":"Guan, X.Y.; Zhang, H.; Bittner, M.; Jiang, Y.; Meltzer, P.; Trent, J.","year":"1996","unstructured":"Guan XY, Zhang H, Bittner M, Jiang Y, Meltzer P, Trent J. Chromosome arm painting probes. Nature Genet 1996; 12:10-11.","journal-title":"Nature Genet"},{"key":"ref_7","volume-title":"series eds. The human cytogenetics database HCDB V10. Oxford Medical Databases: Cytogenetics","author":"In, Schinzel A.Dup(19)(q133-qter)","year":"1994","unstructured":"Schinzel A. Dup(19)(q13.3-qter). In: Baraitser M, Winter RM, series eds. The human cytogenetics database HCDB V10. Oxford Medical Databases: Cytogenetics. Oxford: Oxford University Press, 1994."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ajmg.1320420314","article-title":"Duplication of distal 1 9q: clinical report and review","volume":"42","author":"Boyd, E.; Grass, F.S.; Parke, J.C.","year":"1992","unstructured":"Boyd E, Grass FS, Parke JC, et al. Duplication of distal 1 9q: clinical report and review. Am J Med Genet 1992;42:326-30.","journal-title":"Am J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00303015","article-title":"Distal 1 9q duplication","volume":"60","author":"Zonana, J.; Brown, M.G.; Magenis, R.E.","year":"1982","unstructured":"Zonana J, Brown MG, Magenis RE. Distal 1 9q duplication. 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