{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:34:12Z","timestamp":1760747652817,"version":"build-2065373602"},"reference-count":27,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,10]]},"abstract":"<jats:p>Three patients are described with different phenotypes and differing de novo interstitial deletions of the long arm of a chromosome 7. The first patient has a deletion with loss of the proximal 7q11.23 band. Only three other cases have been reported with this particular deletion. Our second case shows mild dysmorphism similar to the other four patients reported with deletion of bands 7q21.12----21.3. Our third patient has a deletion of the 7q22.1----32.2 segment and has many of the phenotypic features of the other reported cases of del 7q22----32. GUSB, the gene for beta-glucuronidase, has been localised to the 7cen----q22 region. Analysis of beta-glucuronidase levels in blood leucocytes of our patients has helped more precisely to assign this gene locus to 7q21.11 or 7q22.1.<\/jats:p>","DOI":"10.1136\/jmg.26.10.619","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"619-625","source":"Crossref","is-referenced-by-count":19,"title":["A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase."],"prefix":"10.1136","volume":"26","author":[{"given":"K","family":"Fagan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Gill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Henry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Wilkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1399-0004.1982.tb01442.x","article-title":"Interstitial deletion of chromosome 7: a case report and review of the literature","volume":"22","author":"Gibson, J.; Ellis, P.M.; Forsyth, J.S.","year":"1982","unstructured":"Gibson J, Ellis PM, Forsyth JS. Interstitial deletion of chromosome 7: a case report and review of the literature. Clin Genet 1982;22:256-65.","journal-title":"Clin Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ajmg.1320170207","article-title":"Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases","volume":"17","author":"Young, R.S.; Weaver, D.D.; Kukolich, M.K.","year":"1984","unstructured":"Young RS, Weaver DD, Kukolich MK, et al. Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. Am J Med Genet 1984;17:437-50.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/ajmg.1320290307","article-title":"Deletion mapping of the fI-glucuronidase gene","volume":"29","author":"Allanson, J.E.; Gemmill, R.M.; Hecht, B.K.; Johnsen, S.; Wenger, D.A.","year":"1988","unstructured":"Allanson JE, Gemmill RM, Hecht BK, Johnsen S, Wenger DA. Deletion mapping of the fI-glucuronidase gene. Am J Med Genet 1988;29:517-22.","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1399-0004.1983.tb00077.x","article-title":"Chromosome preparations of whole blood lymphocytes: an improved method","volume":"24","author":"Ibraimov, A.","year":"1983","unstructured":"Ibraimov A. Chromosome preparations of whole blood lymphocytes: an improved method. Clin Genet 1983;24:240-2.","journal-title":"Clin Genet"},{"key":"ref_5","first-page":"291","article-title":"Improved and simplified replication pattern banding techniques","volume-title":"Prenat Diagn","volume":"3","author":"Eichenbaum, S.Z.; Krumins, E.J.; Lefkovits, J.; Probert, S.","year":"1983","unstructured":"Eichenbaum SZ, Krumins EJ, Lefkovits J, Probert S. Improved and simplified replication pattern banding techniques. 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Hum Genet 1978;42:223-6.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.16.6.453","article-title":"Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities","volume":"16","author":"Md'A, Crawfurd; I, Kessel; M, Liberman; JA, McKeown; PY, Mandalia; MAC, Ridler","year":"1979","unstructured":"Crawfurd Md'A, Kessel I, Liberman M, McKeown JA, Mandalia PY, Ridler MAC. Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J Med Genet 1979;16:453-60.","journal-title":"J Med Genet"},{"issue":"261","key":"ref_13","first-page":"151","article-title":"A syndrome associated with interstitial deletion of chromosome 7q","volume":"13","author":"Valentine, H.; Sergovich, F.","year":"1977","unstructured":"Valentine H, Sergovich F. A syndrome associated with interstitial deletion of chromosome 7q. 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Hum Genet 1980;54:19-23.","journal-title":"Hum Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1136\/jmg.19.6.473","article-title":"Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22-o7q32)","volume":"19","author":"Abuelo, D.N.; Padre-Mendoza, T.","year":"1982","unstructured":"Abuelo DN, Padre-Mendoza T. Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22-o7q32). J Med Genet 1982;19:473-6.","journal-title":"J Med Genet"},{"key":"ref_17","first-page":"307","article-title":"Interstitial deletion of the long arm of chromosome no 7(7q-) in an infant with multiple anomalies","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 DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ. Interstitial deletion of the long arm of chromosome no 7(7q-) in an infant with multiple anomalies. 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Am J Hum Genet 1977;212:37A.","journal-title":"Am J Hum Genet"},{"key":"ref_20","first-page":"97","article-title":"7q interstitial deletion resulting in failure to thrive and peculiar cry: comparison with previously reported 7ql and 7q2 deletions","volume":"31","author":"Hull, D.R.; Kessler, K.K.; Juberg, R.C.","year":"1979","unstructured":"Hull DR, Kessler KK, Juberg RC. 7q interstitial deletion resulting in failure to thrive and peculiar cry: comparison with previously reported 7ql and 7q2 deletions. Am J Hum Genet 1979;31:97A.","journal-title":"Am J Hum Genet"},{"key":"ref_21","first-page":"265","article-title":"Deletion interstitielle du bras long d'un chromosome 7 chez une enfant leprechaune","volume":"19","author":"Ayraud, N.; Rovinski, J.; Lambert, J.C.; Galiana, A.","year":"1976","unstructured":"Ayraud N, Rovinski J, Lambert JC, Galiana A. Deletion interstitielle du bras long d'un chromosome 7 chez une enfant leprechaune. 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Hum Genet 1981;57:210-3.","journal-title":"Hum Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1136\/jmg.16.6.461","article-title":"Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement","volume":"16","author":"Nielsen, K.B.; Egede, F.; Mouridsen, I.; Mohr, J.","year":"1979","unstructured":"Nielsen KB, Egede F, Mouridsen I, Mohr J. Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. J Med Genet 1979;16:461-6.","journal-title":"J Med Genet"},{"key":"ref_25","first-page":"564","article-title":"Clinical, chromosomal and enzymatic studies in four cases of rearrangements","volume-title":"of chromosome 7. Clin Genet 1985","volume":"27","author":"Bateman, M.A.; Philip, N.; Mattei, M.G.; Mattei, J.F.","unstructured":"Bateman MA, Philip N, Mattei MG, Mattei JF. Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7. 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[46,XX,del (7)(pter--q21.1::q22---qter)j and the location of genes for 1-glucuronidase and cystic fibrosis. Am J Hum Genet 1988;31: 655-61.","journal-title":"Am J Hum Genet; q22---qter)j and the location of genes for 1-glucuronidase and cystic fibrosis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.10.619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:04:16Z","timestamp":1760727856000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.10.619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,10]]},"references-count":27,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1989,10,1]]},"published-print":{"date-parts":[[1989,10]]}},"alternative-id":["10.1136\/jmg.26.10.619"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.10.619","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,10]]}}}