{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074886,"version":"build-2065373602"},"reference-count":37,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,10]]},"abstract":"<jats:p>We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir ins(22;7)(q13.3;q21.2q22.1). Two of her children have unbalanced chromosome rearrangements involving 7q21.3, with one girl monosomic for the region and a boy trisomic for the region. The child monosomic for band 7q21.3 has a split hand\/split foot (SHSF) anomaly and her clinical features are consistent with the 7q21-q22 contiguous gene deletion syndrome. In situ hybridisation studies have shown that the proband and her son have a submicroscopic deletion of chromosome band 22q13.3. Interstitial deletions of this chromosome band have rarely been reported.<\/jats:p>","DOI":"10.1136\/jmg.34.10.857","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"857-861","source":"Crossref","is-referenced-by-count":23,"title":["The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Maher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Gregory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Rowlandson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Huson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,10,1]]},"reference":[{"key":"ref_1","first-page":"1220","article-title":"Fine mapping of the autosomal dominant split hand\/split foot locus on chromosome 7, band q21.3-q22.1","volume":"55","author":"Scherer, S.W.; Poorkaj, P.; Allen, T.","year":"1994","unstructured":"Scherer SW, Poorkaj P, Allen T, et al. Fine mapping of the autosomal dominant split hand\/split foot locus on chromosome 7, band q21.3-q22.1. Am Hum Genet 1994;55:1220.","journal-title":"Am Hum Genet"},{"key":"ref_2","first-page":"2934","article-title":"Cytogenetic analysis using quantitative","volume-title":"high-sensitivity, fluorescence hybridization. Proc NatlAcad Sci USA","volume":"83","author":"Pinkel, D.; Stream, T.; Gary, J.","year":"1986","unstructured":"Pinkel D, Stream T, Gary J. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc NatlAcad Sci USA 1986;83:2934-8."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/0888-7543(91)90190-P","article-title":"Isolation and regional localisation of 35 unique anonymous DNA markers for human chromosome 22","volume":"10","author":"Budarf, M.L.; McDermid, H.E.; Sellinger, B.; Emanuel, B.S.","year":"1991","unstructured":"Budarf ML, McDermid HE, Sellinger B, Emanuel BS. Isolation and regional localisation of 35 unique anonymous DNA markers for human chromosome 22. Genomics 1991; 10:996-1002.","journal-title":"Genomics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","article-title":"Deletions and microdeletions of 22ql 1.2 in velo-cardial-facial syndrome","volume":"44","author":"Driscoll, D.A.; Spinner, N.B.; Budarf, M.L.","year":"1992","unstructured":"Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22ql 1.2 in velo-cardial-facial syndrome. Am7Med Genet 1992;44:261-8.","journal-title":"Am7Med Genet"},{"key":"ref_5","first-page":"21","article-title":"Evidence for locus heterogeneity in human autosomal dominant split hand\/split foot malformation","volume":"55","author":"Palmer, S.E.; Scherer, S.W.; Kukolich, M.","year":"1994","unstructured":"Palmer SE, Scherer SW, Kukolich M, et al. Evidence for locus heterogeneity in human autosomal dominant split hand\/split foot malformation. Am Hum Genet 1994;55: 21-6.","journal-title":"Am Hum Genet"},{"key":"ref_6","first-page":"268","article-title":"Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche","volume":"75","author":"G, Del Porto; E, D.'Alessandro; C, De Matteis; ML, Lo Re; M, Ivaldi; C, Di Fusco","year":"1983","unstructured":"Del Porto G, D'Alessandro E, De Matteis C, Lo Re ML, Ivaldi M, Di Fusco C. Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche. Pathologica 1983;75:268-71.","journal-title":"Pathologica"},{"issue":"27","key":"ref_7","first-page":"45","article-title":"Interstitial deletion of a chromosome 7 (ql 1.2q22. 1) in a child with splithand\/splitfoot malformation","volume":"1984","author":"Pfeiffer, R.A.","unstructured":"Pfeiffer RA. Interstitial deletion of a chromosome 7 (ql 1.2q22. 1) in a child with splithand\/splitfoot malformation. Ann Genet (Paris) 1984,27:45-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/ajmg.1320320212","article-title":"Interstitial long-arm deletion of chromosome 7 and ectrodactyly","volume":"32","author":"Tajara, E.H.; Varella-Garcia, M.; Gusson, A.C.T.","year":"1989","unstructured":"Tajara EH, Varella-Garcia M, Gusson ACT. Interstitial long-arm deletion of chromosome 7 and ectrodactyly. AmJ7 Med Genet 1989;32:192-4.","journal-title":"AmJ7 Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.1320350118","article-title":"Ectro-amelia syndrome associated with an interstitial deletion of 7q","volume":"35","author":"Morey, M.A.; Higgins, R.R.","year":"1990","unstructured":"Morey MA, Higgins RR. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am Med Genet 1990;35:95-9.","journal-title":"Am Med Genet"},{"key":"ref_10","first-page":"327","article-title":"Deletion of 7q22 and ectrodactyly","volume":"2","author":"Rivera, H.; Sanchez-Corona, J.; Burgos-Fuentes, V.R.; Melendez-Riuz, M.J.","year":"1991","unstructured":"Rivera H, Sanchez-Corona J, Burgos-Fuentes VR, Melendez-Riuz MJ. Deletion of 7q22 and ectrodactyly. Genet Counsel 1991;2:327-31.","journal-title":"Genet Counsel"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1136\/jmg.28.7.479","article-title":"Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3","volume":"28","author":"Roberts, S.H.; Hughes, H.E.; Davies, S.J.; Meredith, A.L.","year":"1991","unstructured":"Roberts SH, Hughes HE, Davies SJ, Meredith AL. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J7 Med Genet 1991;28: 479-81.","journal-title":"J7 Med Genet"},{"key":"ref_12","first-page":"277","article-title":"A contiguous gene deletion syndrome at 7q2 1-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly","volume":"3","author":"Nunes, M.E.; Pagon, R.A.; Disteche, C.J.; Evans, J.P.","year":"1994","unstructured":"Nunes ME, Pagon RA, Disteche CJ, Evans JP. A contiguous gene deletion syndrome at 7q2 1-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin Dysmorphol 1994;3:277-86.","journal-title":"Clin Dysmorphol"},{"issue":"473","key":"ref_13","first-page":"90","article-title":"Lacassie Y Ectrodactyly and proximal\/intermediate interstitial deletion 7q: a recognizable syndrome? Amt.7 Hum Genet","volume":"53","author":"McElveen, C.L.; Carvajal, M.V.; Moscatello, D.; Towner, J.","year":"1993","unstructured":"McElveen CL, Carvajal MV, Moscatello D, Towner J, Lacassie Y Ectrodactyly and proximal\/intermediate interstitial deletion 7q: a recognizable syndrome? Amt.7 Hum Genet 1993;53:473A. 14 Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet 1995;47:90-5.","journal-title":"Clin Genet; Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.1320390410","article-title":"Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2","volume":"39","author":"Sharland, M.; Patton, M.A.; Hill, L.","year":"1991","unstructured":"Sharland M, Patton MA, Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. 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Am Med Genet 1993;46:492-3.","journal-title":"Am Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1136\/jmg.32.5.375","article-title":"Bilateral split hand\/foot malformation and inv(7) (p22q21.3)","volume":"32","author":"Cobben, J.M.; Verheoj, J.B.G.M.; Eisma, W.H.","year":"1995","unstructured":"Cobben JM, Verheoj JBGM, Eisma WH, et al. Bilateral split hand\/foot malformation and inv(7) (p22q21.3). _7 Med Genet 1995;32:375-8.","journal-title":"_7 Med Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/ajmg.1320470426","article-title":"Human situs determination and chromosome constitution 46, XY, ins(7; 8) (q22; q1 2q24)","volume":"47","author":"Koiffman, C.P.; Wajntal, A.; de Souza, D.H.; Gonzalez, C.H.; Coates, M.V.","year":"1993","unstructured":"Koiffman CP, Wajntal A, de Souza DH, Gonzalez CH, Coates MV. Human situs determination and chromosome constitution 46,XY,ins(7;8) (q22;q1 2q24). 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Split hand\/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.J Med Genet 1996;33:507-10.","journal-title":"J Med Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1399-0004.1991.tb03077.x","article-title":"EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip\/palate) with a balanced reciprocal translocation between 7ql 1.21 and 9p12 (or 7pl 1.2 and 9qI2) in three generations","volume":"40","author":"Hasegawa, T.; Hasegawa, Y.; Asamura, S.","year":"1991","unstructured":"Hasegawa T, Hasegawa Y, Asamura S, et al. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip\/palate) with a balanced reciprocal translocation between 7ql 1.21 and 9p12 (or 7pl 1.2 and 9qI2) in three generations. Clin Genet 1991;40:202-6.","journal-title":"Clin Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/j.1399-0004.1993.tb03843.x","article-title":"The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip\/palate) confirmed to 7ql 1.21 and 9pl2 by fluorescence in situ hybridization","volume":"44","author":"Fukushima, Y.; Ohashi, H.; Hasegawa, T.","year":"1993","unstructured":"Fukushima Y, Ohashi H, Hasegawa T. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip\/palate) confirmed to 7ql 1.21 and 9pl2 by fluorescence in situ hybridization. Clin Genet 1993;44:50.","journal-title":"Clin Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmg.22.4.283","article-title":"A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a \"pure\" partial monosomy syndrome","volume":"22","author":"Watt, J.L.; Olson, I.A.; Johnston, A.W.; Ross, H.S.; Couzin, D.A.; Stephen, G.S.","year":"1985","unstructured":"Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a \"pure\" partial monosomy syndrome. JMed Genet 1985;22:283-7.","journal-title":"JMed Genet"},{"key":"ref_24","first-page":"780","article-title":"Long arm deletion of chromosome 22. _7 Med","volume":"25","author":"Kirschenbaum, G.; Chmure, M.; Rhone, D.P.","year":"1988","unstructured":"Kirschenbaum G, Chmure M, Rhone DP. Long arm deletion of chromosome 22. _7 Med Genet 1988;25:780.","journal-title":"Genet"},{"key":"ref_25","first-page":"909","article-title":"Multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome with Goldenhar complex due to a terminal del(22q). AmJMed Genet","volume":"29","author":"Herman, G.E.; Greenberg, F.; Ledbetter, D.H.","year":"1988","unstructured":"Herman GE, Greenberg F, Ledbetter DH. Multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome with Goldenhar complex due to a terminal del(22q). AmJMed Genet 1988;29:909-15."},{"key":"ref_26","first-page":"45","article-title":"Two patients with 21ql3.3 deletions have similar faces and developmental patterns","volume":"47","author":"Zwaigenbaum, L.; Siegel-Bartelt, J.; Teshima, I.; Chin, H.","year":"1990","unstructured":"Zwaigenbaum L, Siegel-Bartelt J, Teshima I, Chin H. Two patients with 21ql3.3 deletions have similar faces and developmental patterns. 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Partial monosomy for chromosome 22 in a patient with del(22)(pter-q13.1:: ql3.33-qter). Jf Med Genet 1990;27:588-9.","journal-title":"Jf Med Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1136\/jmg.33.1.84","article-title":"Detection of a familial cryptic translocation by fluorescent in situ hybridisation","volume":"33","author":"Smith, D.P.; Floyd, M.; Say, B.","year":"1996","unstructured":"Smith DP, Floyd M, Say B. Detection of a familial cryptic translocation by fluorescent in situ hybridisation. _7 Med Genet 1996;33:84.","journal-title":"_7 Med Genet"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/ng0295-132","article-title":"The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation","volume":"9","author":"Flint, J.; Wilkie, A.O.M.; Buckle, V.J.; Winter, R.M.; Holland, A.J.; McDermid, H.E.","year":"1995","unstructured":"Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9: 132-40.","journal-title":"Nat Genet"},{"key":"ref_33","first-page":"113","article-title":"Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation","volume":"60","author":"Wong, A.C.C.; Ning, Y.; Flint, J.","year":"1997","unstructured":"Wong ACC, Ning Y, Flint J, et al. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am 7 Hum Genet 1997;60: 113-20.","journal-title":"Am 7 Hum Genet"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1007\/BF00304563","article-title":"Partial trisomy for the long arm of chromosome 7. Case report and review","volume":"62","author":"Novales, M.A.; Fernandez-Novoa, C.; Hevia, A.; San Martin, V.; Galera, H.","year":"1982","unstructured":"Novales MA, Fernandez-Novoa C, Hevia A, San Martin V, Galera H. Partial trisomy for the long arm of chromosome 7. Case report and review. 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