{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:38Z","timestamp":1760783078680,"version":"build-2065373602"},"reference-count":28,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,10]]},"abstract":"<jats:p>We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. Comparison of the phenotypes of our patients and of published patients with an inversion duplication of the short arm of chromosome 8 indicates that trisomy for chromosome band 8p21 causes the more severe clinical picture in the latter.<\/jats:p>","DOI":"10.1136\/jmg.32.10.792","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"792-795","source":"Crossref","is-referenced-by-count":26,"title":["Familial partial trisomy 8p without dysmorphic features and only mild mental retardation"],"prefix":"10.1136","volume":"32","author":[{"given":"J J M","family":"Engelen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C E M de","family":"Die-Smulders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M J","family":"Sijstermans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L E C","family":"Meers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C M","family":"Albrechts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J H","family":"Hamers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,10,1]]},"reference":[{"key":"ref_1","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."},{"key":"ref_2","first-page":"482","article-title":"Inverted review of the lidtueprlatiucraet.ioAnmoJf 8p","volume":"47","author":"Feldman, G.L.; Weiss, L.; Phelan, M.C.; Schroer, R.J.; Van Dyke, D.L.","year":"1993","unstructured":"Feldman GL, Weiss L, Phelan MC, Schroer RJ, Van Dyke DL. Inverted review of the lidtueprlatiucraet.ioAnmoJf 8p: Med ten new patients and Genet 1993;47:482-6."},{"key":"ref_3","first-page":"241","article-title":"Duplication-deficiency of the short arm","volume-title":"of chromosome 8 following artificial insemination","volume":"19","author":"Weleber, R.G.; Verma, R.S.; Kimberling, W.J.; Fieger, H.G.; Lubs, H.A.","year":"1976","unstructured":"Weleber RG, Verma RS, Kimberling WJ, Fieger HG, Lubs HA. Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet (Paris) 1976;19:241-7."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ajmg.1320010103","article-title":"Inverted tandem (\"mirror\") duplication in human chromosomes; inv dup 8p, 4q, 22q","volume":"1","author":"Taylor, K.M.; Francke, U.; Brown, M.G.; George, D.L.; Kaufhold, M.","year":"1977","unstructured":"Taylor KM, Francke U, Brown MG, George DL, Kaufhold M. Inverted tandem (\"mirror\") duplication in human chromosomes; inv dup 8p, 4q, 22q. Am _7 Med Genet 1977;1:3-19.","journal-title":"Am _7 Med Genet"},{"issue":"5-1","key":"ref_5","first-page":"1","article-title":"Chromosome 8: trisomie complete et trisomies segmentaires","volume":"20","author":"Rethore, M.; Aurias, A.; Couturier, J.; Dutrillaux, B.; Prieur, M.; Lejeune, J.","year":"1977","unstructured":"Rethore M, Aurias A, Couturier J, Dutrillaux B, Prieur M, Lejeune J. Chromosome 8: trisomie complete et trisomies segmentaires. Ann Genet (Paris) 1977;20:5-1 1.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","first-page":"237","article-title":"Two cases of an abnormal short arm","volume":"13","author":"Hongell, K.; Knuutila, S.; Westermarck, T.","year":"1978","unstructured":"Hongell K, Knuutila S, Westermarck T. Two cases of an abnormal short arm of chromosome 8 (8p +) associated with mental retardation. Clin Genet 1978;13:237-40.","journal-title":"of chromosome 8 (8p; Clin Genet; associated with mental retardation"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00287049","article-title":"Clinical, enzyme and cytogenetic investigations in three new cases of trisomy 8p","volume":"53","author":"Mattei, J.F.; Mattei, M.G.; Ardissonne, J.P.; Coignet, J.; Giraud, F.","year":"1980","unstructured":"Mattei JF, Mattei MG, Ardissonne JP, Coignet J, Giraud F. Clinical, enzyme and cytogenetic investigations in three new cases of trisomy 8p. Hum Genet 1980;53:315-21.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1111\/j.1399-0004.1985.tb00424.x","article-title":"Partial 8p trisomy due to interstitial duplication: karyotype 46, XX, inv dup","volume":"28","author":"Frijns, J.P.; Kleczkowska, A.; Dereymaker, A.M.","year":"1985","unstructured":"Frijns JP, Kleczkowska A, Dereymaker AM, et al. Partial 8p trisomy due to interstitial duplication: karyotype 46,XX, inv dup (8) (p21.1-p22). Clin Genet 1985;28:546-9.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1399-0004.1987.tb03335.x","article-title":"Inverted tandem duplication generates a duplication deficiency of chromosome 8p","volume":"32","author":"Dill, F.J.; Schertzer, M.; Sandercock, J.; Tischler, B.; Wood, S.","year":"1987","unstructured":"Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S. Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin Genet 1987;32:109-13.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1136\/jmg.27.2.135","article-title":"Inverted tandem duplication of 8pl2--8p23.1 in a child with increased activity of glutathione reductase","volume":"27","author":"Nevin, N.C.; Morrison, P.J.; Jones, J.; MacC Reid, M.","year":"1990","unstructured":"Nevin NC, Morrison PJ, Jones J, MacC Reid M. Inverted tandem duplication of 8pl2--8p23.1 in a child with increased activity of glutathione reductase. _7 Med Genet 1990;27:135-6.","journal-title":"_7 Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1399-0004.1991.tb02985.x","article-title":"Inv dup (8) (p21.1 -p22. 1): further case report and a new hypothesis on the origin of the chromosome abnormality","volume":"39","author":"Gorinati, M.; Caufin, D.; Minelli, A.; Memo, L.; Gaspardo, G.; Dodero, A.","year":"1991","unstructured":"Gorinati M, Caufin D, Minelli A, Memo L, Gaspardo G, Dodero A. Inv dup (8) (p21.1 -p22.1): further case report and a new hypothesis on the origin of the chromosome abnormality. Clin Genet 1991;39:55-9.","journal-title":"Clin Genet"},{"key":"ref_12","first-page":"391","article-title":"D8S7 is consistently deleted in inverted duplications of the short arm","volume-title":"of chromosome 8 (inv dup 8p). Hum Genet","volume":"92","author":"Minelli, A.; Floridia, G.; Rossi, E.","year":"1993","unstructured":"Minelli A, Floridia G, Rossi E, et al. D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet 1993;92:391-6."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/j.1399-0004.1994.tb04024.x","article-title":"Partial trisomy and monosomy 8p due to inversion duplication","volume":"45","author":"Engelen, J.J.M.; de Die-Smulders, C.E.M.; Hoovers, J.M.N.","year":"1994","unstructured":"Engelen JJM, de Die-Smulders CEM, Hoovers JMN, et al. Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet 1994;45:203-7.","journal-title":"Clin Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/ajmg.1320490406","article-title":"U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8","volume":"49","author":"Mitchell, J.J.; Vekemans, M.; Luscombe, S.","year":"1994","unstructured":"Mitchell JJ, Vekemans M, Luscombe S, et al. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am _J Med Genet 1994;49:384-7.","journal-title":"Am _J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.1320500315","article-title":"Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8","volume":"50","author":"Barber, J.C.K.; James, R.S.; Patch, C.; Temple, I.K.","year":"1994","unstructured":"Barber JCK, James RS, Patch C, Temple IK. Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am _7 Med Genet 1994;50: 296-9.","journal-title":"Am _7 Med Genet"},{"article-title":"Trisomy 8p due to interstitial inverted duplication: clinical data on seven patients and review of the literature. Am.7 Med Genet","author":"de Die-Smulders CEM; JJM, Engelen; CTRM, Schrander-Stumpel","key":"ref_16","unstructured":"de Die-Smulders CEM, Engelen JJM, Schrander-Stumpel CTRM, et al. Trisomy 8p due to interstitial inverted duplication: clinical data on seven patients and review of the literature. Am.7 Med Genet (in press)."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/j.1399-0004.1994.tb03987.x","article-title":"Direct transmission of a tandem duplication in the short arm of chromosome 8","volume":"45","author":"Dhooge, C.; Van Roy, N.; Craen, M.; Speleman, F.","year":"1994","unstructured":"Dhooge C, Van Roy N, Craen M, Speleman F. Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin Genet 1994;45:36-9.","journal-title":"Clin Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1002\/ajmg.1320440517","article-title":"Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization","volume":"44","author":"Henderson, K.; Dill, F.; Wood, S.","year":"1982","unstructured":"Henderson K, Dill F, Wood S. Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization. AmJ Med Genet 1982; 44:615-18.","journal-title":"AmJ Med Genet"},{"key":"ref_19","first-page":"93","article-title":"High resolution R-and G-banding in 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 in the same preparation. Hum Genet 1981;57: 93-5.","journal-title":"Hum Genet"},{"key":"ref_20","first-page":"196","article-title":"Alpha satellitelike sequences at the centromere of chromosome 8. An _7 Hum Genet","volume":"39","author":"Donlon, T.; Wyman, A.R.; Mulholland, J.","year":"1986","unstructured":"Donlon T, Wyman AR, Mulholland J, et al. Alpha satellitelike sequences at the centromere of chromosome 8. An _7 Hum Genet 1986;39:196 (abstract 583)."},{"key":"ref_21","first-page":"243","article-title":"Characterization of a human chromosome 8 library constructed from flow-sorted chromosomes","volume":"58","author":"Wood, S.; Schertzer, M.; Drabkin, H.; Patterson, D.; Longmire, J.L.; Deaven, L.L.","year":"1982","unstructured":"Wood S, Schertzer M, Drabkin H, Patterson D, Longmire JL, Deaven LL. Characterization of a human chromosome 8 library constructed from flow-sorted chromosomes. Cytogenet Cell Genet 1982;58:243-7.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1007\/BF01790090","article-title":"Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries","volume":"80","author":"Lichter, P.; Cremer, T.; Borden, J.; Manuelidis, L.; Ward, D.C.","year":"1988","unstructured":"Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 1988;80:224-34.","journal-title":"Hum Genet"},{"key":"ref_23","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter-8p23. 1)","volume":"32","author":"Fryns, J.P.; Kleczkowska, A.; Vogels, A.; van den Berghe, H.","year":"1989","unstructured":"Fryns JP, Kleczkowska A, Vogels A, van den Berghe H. Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter-8p23. 1). Ann Genet (Paris) 1989;32: 171-3.","journal-title":"Ann Genet (Paris)"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/jmg.27.5.327","article-title":"Partial monosomy 8p with minimal dysmorphic signs","volume":"27","author":"Blennow, E.; Brondum-Nielsen, K.","year":"1990","unstructured":"Blennow E, Brondum-Nielsen K. Partial monosomy 8p with minimal dysmorphic signs. _7 Med Genet 1990;27:327-9.","journal-title":"_7 Med Genet"},{"issue":"37","key":"ref_25","first-page":"271","article-title":"Deficiency of distal 8p-: report of two cases and review of the literature","volume":"1990","author":"Pecile, V.; Petroni, M.G.; Fertz, M.C.; Filippi, G.","unstructured":"Pecile V, Petroni MG, Fertz MC, Filippi G. Deficiency of distal 8p-: report of two cases and review of the literature. Clin Genet 1990,37:271-8.","journal-title":"Clin Genet"},{"key":"ref_26","first-page":"602","article-title":"Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation","volume":"89","author":"Pettenati, M.J.; Rao, N.; Johnson, C.","year":"1992","unstructured":"Pettenati MJ, Rao N, Johnson C, et al. Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 1992;89:602-6.","journal-title":"Hum Genet"},{"key":"ref_27","first-page":"\"a\" # \"407","article-title":"Distal 8p deletion","volume":"29","author":"Hutchinson, R.; Wilson, M.; Voullaire, L.","year":"1992","unstructured":"Hutchinson R, Wilson M, Voullaire L. Distal 8p deletion (8p23.1-8pter): a common deletion? I Med Genet 1992; 29:407-11.","journal-title":"I Med Genet; common deletion"},{"key":"ref_28","first-page":"635","article-title":"Isochromosomes and interstitial tandem direct and inverted duplications","volume-title":"The cytogenetics of mammalian autosomial rearrangements","author":"DL, Van Dijke","year":"1988","unstructured":"Van Dijke DL. Isochromosomes and interstitial tandem direct and inverted duplications. In: Daniel A, ed. The cytogenetics of mammalian autosomial rearrangements. New York: Alan R Liss, 1988:635-65."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.10.792","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:19:16Z","timestamp":1759688356000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.10.792"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10]]},"references-count":28,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1995,10,1]]},"published-print":{"date-parts":[[1995,10]]}},"alternative-id":["10.1136\/jmg.32.10.792"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.10.792","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1995,10]]}}}