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Volumn 72, Issue 6, 2007, Pages 593-598

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

Author keywords

4p deletion; Array CGH; Epilepsy; LGI2; Mental retardation; Polymicrogyria

Indexed keywords

ANTICONVULSIVE AGENT; LAMOTRIGINE;

EID: 36248962727     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00901.x     Document Type: Article
Times cited : (10)

References (30)
  • 1
    • 0017623607 scopus 로고
    • Proximal 4p(-) deletion phenotype differs from classical 4p(-) syndrome
    • Francke U, Arias DE, Nyhan WL. Proximal 4p(-) deletion phenotype differs from classical 4p(-) syndrome. Pediatrics 1977: 90: 250-252.
    • (1977) Pediatrics , vol.90 , pp. 250-252
    • Francke, U.1    Arias, D.E.2    Nyhan, W.L.3
  • 2
    • 0021136447 scopus 로고
    • Interstitial deletion of the short arm of chromosome 4
    • Ray M, Evans J, Rockman-Greenberg C et al. Interstitial deletion of the short arm of chromosome 4. J Med Genet 1984: 21: 223-225.
    • (1984) J Med Genet , vol.21 , pp. 223-225
    • Ray, M.1    Evans, J.2    Rockman-Greenberg, C.3
  • 3
    • 0025078464 scopus 로고
    • Interstitial deletion of the band 4p15.3 defined by sequential replication banding
    • Davies J, Voullaire L, Bankier A. Interstitial deletion of the band 4p15.3 defined by sequential replication banding. Ann Genet 1990: 33: 92-95.
    • (1990) Ann Genet , vol.33 , pp. 92-95
    • Davies, J.1    Voullaire, L.2    Bankier, A.3
  • 4
    • 0022259318 scopus 로고
    • A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome
    • Romain DR, Columbano-Green RG, Parfitt CJ et al. A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome. Clin Genet 1985: 28: 166-172.
    • (1985) Clin Genet , vol.28 , pp. 166-172
    • Romain, D.R.1    Columbano-Green, R.G.2    Parfitt, C.J.3
  • 5
    • 0022460760 scopus 로고
    • De novo del(4)(p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome
    • Castro-Felix LP, Ramirez ML, Valera-Huezo S et al. De novo del(4)(p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome. Clin Genet 1986: 29: 439-444.
    • (1986) Clin Genet , vol.29 , pp. 439-444
    • Castro-Felix, L.P.1    Ramirez, M.L.2    Valera-Huezo, S.3
  • 6
    • 0024512175 scopus 로고
    • Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome
    • Fryns JP, Yang-Aisheng, Kleczkowsk A et al. Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome. Ann Genet 1989: 32: 59-61.
    • (1989) Ann Genet , vol.32 , pp. 59-61
    • Fryns, J.P.1    Yang-Aisheng, K.A.2
  • 7
    • 0025009019 scopus 로고
    • Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism
    • Ishikawa T, Sumi S, Fujimoto S et al. Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism. Clin Genet 1990: 38: 314-317.
    • (1990) Clin Genet , vol.38 , pp. 314-317
    • Ishikawa, T.1    Sumi, S.2    Fujimoto, S.3
  • 8
    • 0028929133 scopus 로고
    • Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature
    • Chitayat D, Ruvalcaba RH, Babul R et al. Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature. Am J Med Genet 1995: 55: 147-154.
    • (1995) Am J Med Genet , vol.55 , pp. 147-154
    • Chitayat, D.1    Ruvalcaba, R.H.2    Babul, R.3
  • 9
    • 0029642038 scopus 로고
    • Syndrome of proximal interstitial deletion 4p15
    • Fryns JP. Syndrome of proximal interstitial deletion 4p15. Am J Med Genet 1995: 58: 295-296.
    • (1995) Am J Med Genet , vol.58 , pp. 295-296
    • Fryns, J.P.1
  • 10
    • 0028998214 scopus 로고
    • Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation
    • White DM, Pillers DA, Reiss JA et al. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation. Am J Med Genet 1995: 57: 588-597.
    • (1995) Am J Med Genet , vol.57 , pp. 588-597
    • White, D.M.1    Pillers, D.A.2    Reiss, J.A.3
  • 11
    • 0344823814 scopus 로고    scopus 로고
    • Familial interstitial deletion of chromosome 4 (p15.2p16.1)
    • Tonk VS, Jalal SM, Gonzalez J et al. Familial interstitial deletion of chromosome 4 (p15.2p16.1). Ann Genet 2003: 46: 453-458.
    • (2003) Ann Genet , vol.46 , pp. 453-458
    • Tonk, V.S.1    Jalal, S.M.2    Gonzalez, J.3
  • 12
    • 33744506819 scopus 로고    scopus 로고
    • Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
    • Piovani G, Borsani G, Bertini V et al. Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype. Eur J Med Genet 2006: 49: 215-223.
    • (2006) Eur J Med Genet , vol.49 , pp. 215-223
    • Piovani, G.1    Borsani, G.2    Bertini, V.3
  • 13
    • 33751503669 scopus 로고    scopus 로고
    • Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
    • Erdogan F, Chen W, Kirchhoff M et al. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 2006: 115: 247-253.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 247-253
    • Erdogan, F.1    Chen, W.2    Kirchhoff, M.3
  • 14
    • 22844435668 scopus 로고    scopus 로고
    • CGHPRO - A comprehensive data analysis tool for array CGH
    • Chen W, Erdogan F, Ropers HH. CGHPRO - a comprehensive data analysis tool for array CGH. BMC Bioinformatics 2005: 6: 85.
    • (2005) BMC Bioinformatics , vol.6 , pp. 85
    • Chen, W.1    Erdogan, F.2    Ropers, H.H.3
  • 15
    • 33644857721 scopus 로고    scopus 로고
    • Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
    • Baekvad-Hansen M, Tümer Z, Delicado A. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A 2006: 140: 427-433.
    • (2006) Am J Med Genet A , vol.140 , pp. 427-433
    • Baekvad-Hansen, M.1    Tümer, Z.2    Delicado, A.3
  • 16
    • 0033595192 scopus 로고    scopus 로고
    • Directional guidance of neuronal migration in the olfactory system by the protein Slit
    • Wu W, Wong K, Chen J. Directional guidance of neuronal migration in the olfactory system by the protein Slit. Nature 1999: 400: 331-336.
    • (1999) Nature , vol.400 , pp. 331-336
    • Wu, W.1    Wong, K.2    Chen, J.3
  • 17
    • 0037122889 scopus 로고    scopus 로고
    • Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain
    • Bagri A, Marin O, Plump AS. Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain. Neuron 2002: 33: 233-248.
    • (2002) Neuron , vol.33 , pp. 233-248
    • Bagri, A.1    Marin, O.2    Plump, A.S.3
  • 18
    • 0037122890 scopus 로고    scopus 로고
    • Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system
    • Plump AS, Erskine L, Sabatier C. Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system. Neuron 2002: 33: 219-232.
    • (2002) Neuron , vol.33 , pp. 219-232
    • Plump, A.S.1    Erskine, L.2    Sabatier, C.3
  • 19
    • 0037154163 scopus 로고    scopus 로고
    • Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain
    • Holmqvist MH, Cao J, Hernandez-Pineda R. Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain. Proc Natl Acad Sci U S A 2002: 99: 1035-1040.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 1035-1040
    • Holmqvist, M.H.1    Cao, J.2    Hernandez-Pineda, R.3
  • 20
    • 29444457877 scopus 로고    scopus 로고
    • Common deletion polymorphisms in the human genome
    • McCarroll SA, Hadnott TN, Perry GH et al. Common deletion polymorphisms in the human genome. Nat Genet 2006: 38: 86-92.
    • (2006) Nat Genet , vol.38 , pp. 86-92
    • McCarroll, S.A.1    Hadnott, T.N.2    Perry, G.H.3
  • 21
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature 2006: 444: 444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 22
    • 33846006596 scopus 로고    scopus 로고
    • A comprehensive analysis of common copy-number variations in the human genome
    • Wong KK, deLeeuw RJ, Dosanjh NS et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007: 80: 91-104.
    • (2007) Am J Hum Genet , vol.80 , pp. 91-104
    • Wong, K.K.1    deLeeuw, R.J.2    Dosanjh, N.S.3
  • 23
    • 26444436441 scopus 로고    scopus 로고
    • Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders
    • Gu W, Gibert Y, Wirth T et al. Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders. Mol Biol Evol 2005: 22: 2209-2216.
    • (2005) Mol Biol Evol , vol.22 , pp. 2209-2216
    • Gu, W.1    Gibert, Y.2    Wirth, T.3
  • 24
    • 0036712759 scopus 로고    scopus 로고
    • LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
    • Gu W, Brodtkorb E, Steinlein OK. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 2002: 52: 364-367.
    • (2002) Ann Neurol , vol.52 , pp. 364-367
    • Gu, W.1    Brodtkorb, E.2    Steinlein, O.K.3
  • 25
    • 0035974897 scopus 로고    scopus 로고
    • A novel gene causing a Mendelian audiogenic mouse epilepsy
    • Skradski SL, Clark AM, Jiang H et al. A novel gene causing a Mendelian audiogenic mouse epilepsy. Neuron 2001: 31: 537-544.
    • (2001) Neuron , vol.31 , pp. 537-544
    • Skradski, S.L.1    Clark, A.M.2    Jiang, H.3
  • 26
    • 21744448333 scopus 로고    scopus 로고
    • Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/ USH2C) in zebrafish
    • Gibert Y, McMillan DR, Kayes-Wandover K et al. Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish. Gene 2005: 353: 200-206.
    • (2005) Gene , vol.353 , pp. 200-206
    • Gibert, Y.1    McMillan, D.R.2    Kayes-Wandover, K.3
  • 28
    • 0038412585 scopus 로고    scopus 로고
    • Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait
    • Zollino M, Colosimo C, Zuffardi O et al. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. Am J Med Genet A 2003: 117: 65-71.
    • (2003) Am J Med Genet A , vol.117 , pp. 65-71
    • Zollino, M.1    Colosimo, C.2    Zuffardi, O.3
  • 29
    • 33748181142 scopus 로고    scopus 로고
    • Epileptogenesis in pediatric cortical dysplasia: The dysmature cerebral developmental hypothesis
    • Cepeda C, Andre VM, Levine MS et al. Epileptogenesis in pediatric cortical dysplasia: The dysmature cerebral developmental hypothesis. Epilepsy Behav 2006: 9: 219-235.
    • (2006) Epilepsy Behav , vol.9 , pp. 219-235
    • Cepeda, C.1    Andre, V.M.2    Levine, M.S.3
  • 30
    • 33746514973 scopus 로고    scopus 로고
    • Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
    • Merla G, Howald C, Henrichsen CN et al. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 2006: 79: 332-341.
    • (2006) Am J Hum Genet , vol.79 , pp. 332-341
    • Merla, G.1    Howald, C.2    Henrichsen, C.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.