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