{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:01:45Z","timestamp":1784098905848,"version":"3.55.0"},"reference-count":11,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,4]]},"abstract":"<jats:p>Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.<\/jats:p>","DOI":"10.1136\/jmg.16.2.151","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"151-154","source":"Crossref","is-referenced-by-count":30,"title":["Two cases with different deletions of the long arm of chromosome 7."],"prefix":"10.1136","volume":"16","author":[{"given":"J M","family":"Klep-de Pater","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Bijlsma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Bleeker-Wagemakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H F","family":"de France","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"de Vries-Ekkers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1979,4,1]]},"reference":[{"key":"ref_1","first-page":"265","article-title":"Deletion interstitielle du bras long d'un chromosome 7 chez une enfant lepr6chaune","volume":"19","author":"Ayraud, N.; Rovinski, J.; Lambert, J.C.; Galiana, A.","year":"1976","unstructured":"Ayraud, N., Rovinski, J., Lambert, J. C., and Galiana, A. (1976). Deletion interstitielle du bras long d'un chromosome 7 chez une enfant lepr6chaune. Annales de Genitique, 19, 265-268.","journal-title":"Annales de Genitique"},{"key":"ref_2","first-page":"101","article-title":"Balanced t(8; 9) (ql2; q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm","volume-title":"of chromosome 7. Human Genetics","volume":"41","author":"Biederman, B.; Bowen, P.","year":"1978","unstructured":"Biederman, B., and Bowen, P. (1978). Balanced t(8;9) (ql2;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7. Human Genetics, 41, 101-107."},{"key":"ref_3","first-page":"197","article-title":"Tentative localization of a Hageman (factor XII) locus on 7q, probably the 7q35 band","volume":"24","author":"De Grouchy, J.; Turleau, C.","year":"1974","unstructured":"De Grouchy, J., and Turleau, C. (1974). Tentative localization of a Hageman (factor XII) locus on 7q, probably the 7q35 band. Humangenetik, 24, 197-200.","journal-title":"Humangenetik"},{"key":"ref_4","first-page":"93","article-title":"A case of ?6pchromosomal aberration","volume":"115","author":"De Grouchy, J.; Veslot, J.; Bonnette, J.; Roidot, M.","year":"1968","unstructured":"De Grouchy, J., Veslot, J., Bonnette, J., and Roidot, M. (1968). A case of ?6pchromosomal aberration. American Journal of Diseases of Children, 115, 93-99.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00344020","article-title":"An improved banding technique exemplified in the karyotype analysis of two strains of rat","volume":"41","author":"Gallimore, P.H.; Richardson, C.R.","year":"1973","unstructured":"Gallimore, P. H., and Richardson, C. R. (1973). An improved banding technique exemplified in the karyotype analysis of two strains of rat. Chromosoma, 41, 259-263.","journal-title":"Chromosoma"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1399-0004.1977.tb00932.x","article-title":"7q deletion syndrome (7q32-'7qter)","volume":"12","author":"Harris, E.L.; Wappner, R.S.; Palmer, C.G.; Hall, B.; Dinno, N.; Seashore, M.R.; Breg, W.R.","year":"1977","unstructured":"Harris, E. L., Wappner, R. S., Palmer, C. G., Hall, B., Dinno, N., Seashore, M. R., and Breg, W. R. (1977). 7q deletion syndrome (7q32-'7qter). Clinical Genetics, 12, 233-238.","journal-title":"Clinical Genetics"},{"issue":"7","key":"ref_7","first-page":"307","article-title":"Interstitial deletion of the long arm of chromosome","volume":"7","author":"Higginson, G.; Weaver, D.D.; Magenis, R.E.; Prescott, G.H.; Haag, C.; Hepburn, D.J.","year":"1976","unstructured":"Higginson, G., Weaver, D. D., Magenis, R. E., Prescott, G. H., Haag, C., and Hepburn, D. J. (1976). Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clinical Genetics, 10, 307-312.","journal-title":"Clinical Genetics; in an infant with multiple anomalies"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1136\/jmg.14.2.144","article-title":"A Partial long arm deletion of chromosome 7: 46, XY, del(7)(q32)","volume":"14","author":"Kousseff, B.G.; Hsu, L.Y.F.; Paciuc, S.; Hirschhorn, K.","year":"1977","unstructured":"Kousseff, B. G., Hsu, L. Y. F., Paciuc, S., and Hirschhorn, K. (1977). A Partial long arm deletion of chromosome 7: 46,XY,del(7)(q32). Journal of Medical Genetics, 14, 144-147.","journal-title":"Journal of Medical Genetics"},{"key":"ref_9","first-page":"55","article-title":"A simple method for R-banding of human chromosomes showing a pH-dependent connection between R-and G-bands","volume":"21","author":"Sehested, J.","year":"1974","unstructured":"Sehested, J. (1974). A simple method for R-banding of human chromosomes showing a pH-dependent connection between R-and G-bands. Humangenetik, 21, 55-58.","journal-title":"Humangenetik"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1399-0004.1973.tb01932.x","article-title":"Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus","volume":"4","author":"Shokeir, M.H.K.; Ying, K.L.; Pabello, P.","year":"1973","unstructured":"Shokeir, M. H. K., Ying, K. L., and Pabello, P. (1973). Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus. Clinical Genetics, 4, 360-368.","journal-title":"Clinical Genetics"},{"issue":"3","key":"ref_11","first-page":"261","article-title":"A syndrome associated with interstitial deletion of chromosome 7q. Birth Defects: Original Article","volume":"14","author":"Valentine, H.; Sergovich, F.","year":"1977","unstructured":"Valentine, H., and Sergovich, F. (1977). A syndrome associated with interstitial deletion of chromosome 7q. Birth Defects: Original Article Series, 14, No. 3B, 261-262.","journal-title":"Series"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.2.151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:50:13Z","timestamp":1760727013000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.2.151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,4]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1979,4,1]]},"published-print":{"date-parts":[[1979,4]]}},"alternative-id":["10.1136\/jmg.16.2.151"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.2.151","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,4]]}}}