| 1 | DEL7Q21, SHFM1
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| Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.
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| Sivasankaran A, Srikanth A, Kulshreshtha PS, Anuradha D, Kadandale JS, Samuel CR.
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| Mol Syndromol 6(6):287-96. doi: 10.1159/000443708.
2016
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| 2 | DEL7Q21, DLX5, DLX6
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| Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).
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| Brown KK, Reiss JA, Crow K, Ferguson HL, Kelly C, Fritzsch B, Morton CC.
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| Hum Genet 127(1):19-31. Epub .PMID: 19707792 2010
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| 3 | DEL7Q21, DYT11, HEPACAM2, SGCE
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| Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.
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| Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E.
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| Am J Med Genet A 152A(5):1244-9.PMID: 20425829 2010
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| 4 | DEL7Q21
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| Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.
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| Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N.
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| Am J Med Genet A 149A(6):1224-30.
2009
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| 5 | DEL7Q21, SHFM1, DLX5, DLX6
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| Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
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| Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B.
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| Am J Med Genet A 146(2):238-44. 2008
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| 6 | DEL7Q21, DYT11, SGCE
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| Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
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| Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P.
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| J Hum Genet 53(10):876-85. Epub 2008 Jul 24. 2008
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| 7 | COL1A2, DEL7Q21, DYT11, SGCE
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| Myoclonus-dystonia: significance of large SGCE deletions.
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| Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C.
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| Hum Mutat 29(2):331-2. 2008
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| 8 | SHFM1, DEL7Q21, DLX5, DLX6
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| Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
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| Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.
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| Am J Med Genet A 143(4):333-7. 2007
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| 9 | COL1A2, DEL7Q21, DYT11, KRIT1, SGCE, SHFM1
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| Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
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| Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.
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| Brain 130(Pt 10):2736-45. 2007
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| 10 | DEL7Q21, SGCE
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| Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
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| DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Kollros PR, Zackai EH, Emanuel BS.
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| Am J Med Genet 121A(1):31-6. 2003
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| 11 | DEL7Q21,DLX5,DLX6,SHFM1
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| The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.
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| Robledo RF, Rajan L, Li X, Lufkin T.
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| Genes Dev 16(9):1089-101. 2002
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| 12 | SHFM1, DEL7Q21
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| Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
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| Haberlandt E, Loffler J, Hirst-Stadlmann A, Stockl B, Judmaier W, Fischer H, Heinz-Erian P, Muller T, Utermann G, Smith RJ, Janecke AR.
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| J Med Genet 38(6):405-9. No abstract available. 2001
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| 13 | SHFM1, DEL7Q21
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| The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
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| Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM.
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| J Med Genet 34(10):857-61. 1997
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| 14 | DLX5, DLX6, SHFM1, DEL7Q21
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| Characterization of the split hand/split foot malformation locus SHFM1at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
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| Crackower MA, et al.
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| Hum Mol Genet 5 : 571-579. 1996
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| 15 | SHFM1, DEL7Q21
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| Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
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| Ignatius J, et al.
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| J Med Genet 33 : 507-510. 1996
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| 16 | SHFM1, DEL7Q21
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| Ectrodactyly and proximal/intermediate interstitial deletion 7q.
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| McElveen C, et al.
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| Am J Med Genet 56 : 1-5. 1995
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| 17 | SHFM1, DEL7Q21
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| Bilateral split hand/foot malformation and inv(7)(p22q21.3).
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| Cobben JM, et al.
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| J Med Genet 32 : 375-378. 1995
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| 18 | DLX5, SHFM1, DEL7Q21
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| Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
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| Scherer SW, et al.
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| Hum Mol Genet 3 : 1345-1354. 1994
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| 19 | SHFM1, DEL7Q21
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| Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
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| Scherer SW, et al.
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| Am J Hum Genet 55 : 12-20. 1994
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| 20 | SHFM1, DEL7Q21
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| EEC Syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.
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| Qumsiyeh MB.
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| Clin Genet 42 : 101. 1992
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| 21 | SHFM1, DEL7Q21
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| Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
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| Sharland M, et al.
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| Am J Med Genet 39 : 413-414. 1991
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| 22 | SHFM1, DEL7Q21
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| Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.
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| Roberts SH, et al.
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| J Med Genet 28 : 479-481. 1991
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| 23 | SHFM1, DEL7Q21
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| Deletion of 7q22 and ectrodactyly.
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| Rivera H, et al.
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| Genet Couns 2 : 27-31. 1991
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| 24 | SHFM1, DEL7Q21
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| EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
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| Hasegawa T, et al.
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| Clin Genet 40 : 202-206. 1991
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| 25 | SHFM1, DEL7Q21
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| Ectro-amelia syndrome associated with an interstitial deletion of 7q.
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| Morey MA, et al.
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| Am J Med Genet 35 : 95-99. 1990
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| 26 | SHFM1, DEL7Q21
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| Interstitial long arm deletion of chromosome 7 and ectrodactyly.
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| Tajara EH, et al.
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| Am J Med Genet 32 : 192-194. 1989
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| 27 | SHFM1, DEL7Q21
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| Interstitial deletion of a chromosome 7(q11.2-q22.1) in a child with splithand splitfoot malformation.
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| Pfeiffer RA.
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| Ann Genet 27 : 45-48. 1984
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