{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:45:11Z","timestamp":1764171911149,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,4]]},"abstract":"<jats:p>In this communication, we describe two cases of proximal 2q trisomy (2q11.2--&gt; q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.<\/jats:p>","DOI":"10.1136\/jmg.35.4.319","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"319-322","source":"Crossref","is-referenced-by-count":17,"title":["Trisomy 2q11.2--&gt;q21.1 resulting from an unbalanced insertion in two generations."],"prefix":"10.1136","volume":"35","author":[{"given":"I A","family":"Glass","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Stormer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P T","family":"Oei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Hacking","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P D","family":"Cotter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,4,1]]},"reference":[{"author":"Walker, J.L.; Blank, C.E.; Smith, B.A.M.","unstructured":"Walker JL, Blank CE, Smith BAM. Interstitial deletion of the short arm of chromosome 5 in a mother and three children.lMed Genet 1984;21:465-7. this is distal to the breakpoints in our patients. However, more than one IDDM susceptibility","article-title":"Interstitial deletion of the short arm of chromosome 5 in a mother and three children.lMed Genet 1984; 21: 465-7. this is distal to the breakpoints in our patients. However, more than one IDDM susceptibility","key":"ref_1"},{"key":"ref_2","first-page":"35660","article-title":"Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the gene on 2q may exist20 so the intriguing possibility remains that increased dosage of a short arm of chromosome 5","volume":"44","author":"Keppen, L.D.; Gollin, S.M.; Edwards, D.; Sawyer, J.; Wilson, W.; Overhauser, J.","year":"1992","unstructured":"Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J. Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the gene on 2q may exist20 so the intriguing possibility remains that increased dosage of a short arm of chromosome 5. AmJMed Genet 1992;44:35660.","journal-title":"AmJMed Genet"},{"key":"ref_3","first-page":"212","article-title":"2q IDDM susceptibility gene may be involved in causing diabetes in these people. Both Fertility and the cri du chat syndrome","volume":"43","author":"Martinez, J.E.; Tuck-Miller, C.M.; Superneau, D.; Wertelecki, W.","year":"1993","unstructured":"Martinez JE, Tuck-Miller CM, Superneau D, Wertelecki W. 2q IDDM susceptibility gene may be involved in causing diabetes in these people. Both Fertility and the cri du chat syndrome. Clin Genet 1993;43: 212-14.","journal-title":"Clin Genet"},{"key":"ref_4","first-page":"104","article-title":"Familmother and daughter have required major tranquilliser medication to control psychotic ial retinoblastoma (mother and son) with 13q14 deletion","volume":"77","author":"Fukushima, Y.; Kuroki, Y.; Ito, T.; Kondo, I.; Nishigaki, I.","year":"1987","unstructured":"Fukushima Y, Kuroki Y, Ito T, Kondo I, Nishigaki I. Familmother and daughter have required major tranquilliser medication to control psychotic ial retinoblastoma (mother and son) with 13q14 deletion. Hum Genet 1987;77:104-7.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"175","article-title":"An intrachromosomal episodes characterised, in both instances, by paranoid features. Interestingly, schizophrenia insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations","volume":"29","author":"Cross, I.; Delhanty, J.; Chapman, P.","year":"1992","unstructured":"Cross I, Delhanty J, Chapman P, et al. An intrachromosomal episodes characterised, in both instances, by paranoid features. Interestingly, schizophrenia insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. Jf Med Genet 1992;29: 175-9. has shown linkage to 8p in some studies,21 22 but not others.23 Aschauer et af4 examined the","journal-title":"Jf Med Genet; has shown linkage to 8p in some studies,21 22 but not others.23 Aschauer et af4 examined the"},{"key":"ref_6","first-page":"309","article-title":"Familial DiGeorge\/velocardiofacial syndrome with deletions of chromosome area 22ql 1.2: report of five families with a review of the literature. Am JfMed ering that the trisomic region of 2q involved is relatively large. This might suggest that either the function of genes expressed from this segment is not dosage dependent or that the effect of overexpression of genes from 2q is relatively benign. Several cases of aneuploidy Genet","volume":"65","author":"Dqana-Cox, J.; Pangkanon, S.; Eanet, K.R.; Curtin, M.S.; W, slfsberg E.A.","year":"1996","unstructured":"Dqana-Cox J, Pangkanon S, Eanet KR, Curtin MS, W,slfsberg EA. Familial DiGeorge\/velocardiofacial syndrome with deletions of chromosome area 22ql 1.2: report of five families with a review of the literature. Am JfMed ering that the trisomic region of 2q involved is relatively large. This might suggest that either the function of genes expressed from this segment is not dosage dependent or that the effect of overexpression of genes from 2q is relatively benign. Several cases of aneuploidy Genet 1996;65:309-16."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<84::AID-AJMG17>3.0.CO;2-R","article-title":"Unbalanced translo.cation in a mother and her son in one of two 5; 10 translocation families","volume":"62","author":"Barber, J.C.K.; Temple, I.K.; Campbell, P.L.","year":"1996","unstructured":"Barber JCK, Temple IK, Campbell PL, et al. Unbalanced translo.cation in a mother and her son in one of two 5; 10 translocation families. Am J Med Genet 1996;62:84-90.","journal-title":"Am J Med Genet"},{"author":"Rani, A.S.; Jyothi, A.; Reddy, P.P.; Reddy, O.S.","unstructured":"Rani AS, Jyothi A, Reddy PP, Reddy OS. Reproduction in Down's syndrome. IntJ Gynecol Obstet 1990;31:81-6. associated with apparently normal phenotypes have been reported, indicating that increased","article-title":"Reproduction in Down's syndrome. IntJ Gynecol Obstet 1990; 31: 81-6. associated with apparently normal phenotypes have been","key":"ref_8"},{"key":"ref_9","first-page":"13","article-title":"Reproduction in Down syndrome","volume":"59","author":"Bovicelli, L.; Orsini, L.F.; Rizzo, N.; Montacuti, V.; Bacchetta, M.","year":"1982","unstructured":"Bovicelli L, Orsini LF, Rizzo N, Montacuti V, Bacchetta M. Reproduction in Down syndrome. Obstet Gynecol 1982;59: 13-17S.","journal-title":"Obstet Gynecol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/ajmg.1320560214","article-title":"Familial inverted duplication 7p","volume":"56","author":"Schaefer, G.B.; Novak, K.; Steele, D.","year":"1995","unstructured":"Schaefer GB, Novak K, Steele D, et al. Familial inverted duplication 7p. AmJ Med Genet 1995;56:184-7.","journal-title":"AmJ Med Genet"},{"key":"ref_11","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_12","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1073\/pnas.83.9.2934","article-title":"Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization","volume":"83","author":"Pinkel, D.; Straume, T.; Gray, J.W.","year":"1986","unstructured":"Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986;83:2934-8.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1136\/jmg.21.1.57","article-title":"De novo direct duplication of the proximal long arm of chromosome 2","volume":"21","author":"Mu, Y.; Van Dyke, D.L.; Weiss, L.; Olgac, S.","year":"1984","unstructured":"Mu Y, Van Dyke DL, Weiss L, Olgac S. De novo direct duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(ql 1.2ql4.2). JfMed Genet 1984;21:57-8.","journal-title":"JfMed Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1126\/science.272.5269.1811","article-title":"Markers on distal chromosome 2q linked to insulindependent diabetes mellitus","volume":"272","author":"Morahan, G.; Huang, D.; Tait, B.D.; Colman, P.G.; Harrison, L.C.","year":"1996","unstructured":"Morahan G, Huang D, Tait BD, Colman PG, Harrison LC. Markers on distal chromosome 2q linked to insulindependent diabetes mellitus. Science 1996;272: 1811-13.","journal-title":"Science"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/ajmg.1320600316","article-title":"Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes","volume":"60","author":"Pulver, A.E.; Lasseter, V.K.; Kasch, L.","year":"1995","unstructured":"Pulver AE, Lasseter VK, Kasch L, et al. Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am Med Genet 1995;60:252-60.","journal-title":"Am Med Genet"},{"key":"ref_16","first-page":"1434","article-title":"Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish study of high-density schizophrenia families","volume":"153","author":"Kendler, K.S.; MacLean, C.J.; O'Neill, F.A.","year":"1996","unstructured":"Kendler KS, MacLean CJ, O'Neill FA, et al. Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish study of high-density schizophrenia families. Am Psychiatry 1996;153:1434-540.","journal-title":"Am Psychiatry"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/0920-9964(96)00048-5","article-title":"A linkage study of schizophrenia with DNA markers from chromosome 8p21-22 in 25 multiplex families","volume":"22","author":"Kunugi, H.; Curtis, D.; Vallada, H.P.","year":"1996","unstructured":"Kunugi H, Curtis D, Vallada HP, et al. A linkage study of schizophrenia with DNA markers from chromosome 8p21-22 in 25 multiplex families. Schizophr Res 1996;22: 61-8.","journal-title":"Schizophr Res"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/BF02190727","article-title":"No proof of linkage between schizophrenia-related disorders including schizophrenia and chromosome 2q21 region","volume":"243","author":"Aschauer, H.N.; Fischer, G.; Isenberg, K.E.","year":"1993","unstructured":"Aschauer HN, Fischer G, Isenberg KE, et al. No proof of linkage between schizophrenia-related disorders including schizophrenia and chromosome 2q21 region. EurArch Psychiatry Clin Neurosci 1993;243:193-8.","journal-title":"EurArch Psychiatry Clin Neurosci"},{"key":"ref_19","first-page":"582","article-title":"Chromosome imbalance, normal phenotype, and imprinting.7 Med","volume":"27","year":"1990","unstructured":"Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi 0. Chromosome imbalance, normal phenotype, and imprinting.7 Med Genet 1990;27:582-7.","journal-title":"Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/ajmg.1320410311","article-title":"Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype","volume":"41","author":"Wolff, D.J.; Raffel, L.J.; Ferre, M.M.; Schwartz, S.","year":"1991","unstructured":"Wolff DJ, Raffel LJ, Ferre MM, Schwartz S. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype. Am Med Genet 1991;41: 319-21.","journal-title":"Am Med Genet"},{"key":"ref_21","first-page":"1114","article-title":"Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)","volume":"59","author":"Bernasconi, F.; Karaguzel, A.; Celep, F.","year":"1996","unstructured":"Bernasconi F, Karaguzel A, Celep F, et al. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). Am Hum Genet 1996;59:1114-18.","journal-title":"Am Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ng1292-292","article-title":"Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit","volume":"2","author":"Pentao, L.; Wise, C.A.; Chinault, A.C.; Patel, P.I.; Lupski, JR","year":"1992","unstructured":"Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. 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