| 1 | DEL2Q31, DUP2Q31
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| Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
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| Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M.
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| Eur J Hum Genet 19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.
2011
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| 2 | DEL2Q31
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| 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
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| Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P.
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| J Med Genet 48(2):98-104. Epub 2010 Nov 10.
2011
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| 3 | DEL2Q31, DEL2Q32
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| Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
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| Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, Aboura A.
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| Am J Med Genet A 152A(1):111-7. 2010
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| 4 | DEL2Q31
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| Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
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| Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D.
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| Am J Med Genet A 152A(5):1213-24.PMID: 20425826 2010
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| 5 | DEL2Q31, DUP2Q31, DUP2QM, HOXD@, MMDK
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| Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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| Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.
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| Eur J Hum Genet 18(12):1310-1314. Epub 2010 Jul 21.PMID: 20648051 2010
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| 6 | DEL2Q31, MSTN
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| 2q31.2q32.3 deletion syndrome: Report of an adult patient.
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| Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E.
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| Am J Med Genet A 149A(4):706-12.
2009
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| 7 | DEL2Q31, HOXD@
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| A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
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| Tsai LP, Liao HM, Chen YJ, Fang JS, Chen CH.
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| Clin Genet 75(5):449-56.
2009
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| 8 | DEL2Q31
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| Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
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| Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.
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| Am J Med Genet A 143A(12):1348-1353 [Epub ahead of print] 2007
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| 9 | DEL2Q31, HOXD@ , TCOF1
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| Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
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| Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.
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| Am J Med Genet A 143(10):1053-9. 2007
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| 10 | DEL2Q31
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| Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.
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| Gambrelle J, Till M, Lukusa B, Beby F, Mory N, Sann L, Kodjikian L, Grange JD, Putet G.
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| Ophthalmic Genet 28(2):105-9. 2007
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| 11 | DEL2Q31
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| Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
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| Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F.
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| Am J Med Genet A 143A(8):858-65.
2007
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| 12 | HOXD@, DEL2Q31
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| Breakpoints around the HOXD cluster result in various limb malformations.
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| Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM.
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| J Med Genet 43(2):111-8. Epub 2005 Jun 24. 2006
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| 13 | EVX2, HOXD@, HOXD10, HOXD11, HOXD12, HOXD13, HOXD9, PSDY2, SHFM5, DEL2Q31
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| A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
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| Goodman FR, Majewski F, Collins AL, Scambler PJ.
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| Am J Hum Genet 70(2):547-55. 2002
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| 14 | DEL2Q31, HOXD1, HOXD@
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| A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.
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| Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D.
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| Genomics 79(4):493-8. 2002
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| 15 | DEL2Q31,HFG,HOXA@,HOXB@,HOXC@,HOXD@,PSDY2,SDTY5
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| Limb malformations and the human HOX genes.
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| Goodman FR.
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| Am J Med Genet 112(3):256-65. Review. 2002
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| 16 | HOXD@, DEL2Q31
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| Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster.
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| Del Campo M, et al.
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| Am J Hum Genet 65(1):104-110. 1999
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| 17 | DEL2Q31
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| Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
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| Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H.
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| Am J Med Genet 86(1):75-81. 1999
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| 18 | HOXD@, DEL2Q31
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| Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
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| Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL.
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| Am J Med Genet 55(2):155-60. Review. 1995
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| 19 | HOXD@, DEL2Q31
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| A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.
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| Ramer JC, Ladda RL, Frankel CA, Beckford A.
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| Am J Med Genet 32(3):359-63. Review. 1989
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| 20 | DEL2Q31, DEL2Q14
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| Interstitial deletion 2q14q21.
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| Frydman M, Steinberger J, Shabtai F, Katznelson MB, Varsano I.
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| Am J Med Genet 34(4):476-9. 1989
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