{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075841,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose, carp mouth, receding chin, misshapen ears, simian creases, and severe mental retardation. In addition, one patient had pyloric stenosis and an inguinal hernia. Growth retardation and microcephaly were not found in either of them. The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23).<\/jats:p>","DOI":"10.1136\/jmg.14.6.438","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"438-444","source":"Crossref","is-referenced-by-count":46,"title":["Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings."],"prefix":"10.1136","volume":"14","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Auf der Maur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Moser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"63","article-title":"Monosomie partielle 1 lq. Une nouvelle observation","volume":"20","author":"Bresson, J.L.; Noir, A.","year":"1977","unstructured":"Bresson, J. L., and Noir, A. (1977). Monosomie partielle 1 lq. Une nouvelle observation. 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S., Cassidy, S. B., and McGee, B. J. (1976). Chromosome 11 long arm partial deletion: a new syndrome. American Journal of Mental Deficiency, 80, 473-475.","journal-title":"American Journal of Mental Deficiency"},{"key":"ref_6","first-page":"6","article-title":"A case","author":"Faust, J.; Vogel, W.; Loning, B.","year":"1974","unstructured":"Faust, J., Vogel, W., and Loning, B. (1974). A case with 46, XX, del (11) (q21). Clinical Genetics, 6,90-97.","journal-title":"Clinical Genetics"},{"key":"ref_7","first-page":"87","volume":"28","author":"Fonatsch, C.; Flatz, S.; Stendel, A.","year":"1975","unstructured":"Fonatsch, C., Flatz, S., and Stendel, A. (1975). De novo (11; 13) translocation. Humangenetik, 28, 87-91.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"250","article-title":"Proximal 4pdeletion","volume":"90","author":"Francke, U.; Arias, D.E.; Nyhan, W.L.","year":"1977","unstructured":"Francke, U., Arias, D. E., and Nyhan, W. L. (1977). Proximal 4pdeletion.Journal ofPediatrics, 90, 250-252.","journal-title":"Journal ofPediatrics"},{"key":"ref_9","first-page":"35","article-title":"The llqsyndrome","author":"Frank, J.; Riccardi, V.M.","year":"1977","unstructured":"Frank, J., and Riccardi, V. M. (1977). The llqsyndrome. Human Genetics, 35,241-246.","journal-title":"Human Genetics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/265065a0","article-title":"Evidence for localisation of genes for human a-globin on the long arm of chromosome 4","volume":"265","author":"Gandini, E.; Dallapiccola, B.; Laurent, C.; Suerinc, E.F.; Forabosco, A.; Conconi, F.; del Senno, L.","year":"1977","unstructured":"Gandini, E., Dallapiccola, B., Laurent, C., Suerinc, E. F., Forabosco, A., Conconi, F., and del Senno, L. (1977). Evidence for localisation of genes for human a-globin on the long arm of chromosome 4. Nature (London), 265, 65-66.","journal-title":"Nature (London)"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1159\/000152624","article-title":"An (11; 21) translocation in four generations with chromosome 11 abnormalities in the offspring","volume":"23","author":"Jacobsen, P.; Hauge, M.; Henningsen, K.; Hobolt, N.; Mikkelsen, M.; Philip, J.","year":"1973","unstructured":"Jacobsen, P., Hauge, M., Henningsen, K., Hobolt, N., Mikkelsen, M., and Philip, J. (1973). An (11; 21) translocation in four generations with chromosome 11 abnormalities in the offspring. Human Heredity, 23, 568-585.","journal-title":"Human Heredity"},{"key":"ref_12","first-page":"125","article-title":"Deletion of 11 q: report of two cases and a review","volume":"5","author":"Larson, S.A.; Yeatman, G.W.; Riccardi, V.M.","year":"1976","unstructured":"Larson, S. A., Yeatman, G. W., and Riccardi, V. M. (1976). Deletion of 11 q: report of two cases and a review. 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Humangenetik, 15, 349-353.","journal-title":"Humangenetik"},{"key":"ref_19","first-page":"18","article-title":"D6l6tion interstitielle du bras long d'un chromosome 11","volume":"6","author":"Taillemite, J.L.; Baheux-Morlier, G.; Roux, Ch","year":"1975","unstructured":"Taillemite, J. L., Baheux-Morlier, G., and Roux, Ch. (1975). D6l6tion interstitielle du bras long d'un chromosome 11. Annales de Gin6tique, 18,61-63.","journal-title":"Annales de"},{"key":"ref_20","first-page":"18","article-title":"Monosomie partielle llq et trigonocephalie. Un nouveau syndrome","volume":"6","author":"Turleau, C.; Chavin-Colin, F.; Roubin, M.; Thomas, D.; de Grouchy, J.","year":"1975","unstructured":"Turleau, C., Chavin-Colin, F., Roubin, M., Thomas, D., and de Grouchy, J. (1975). Monosomie partielle llq et trigonocephalie. Un nouveau syndrome. 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