메뉴 건너뛰기




Volumn 134, Issue 4, 2011, Pages 325-330

Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature

Author keywords

Clinical features; Instability; Ring chromosome; Single nucleotide polymorphism array

Indexed keywords

ADOLESCENT; CASE REPORT; CHROMOSOME 3P; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME G BAND; CLINICAL EXAMINATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH DISORDER; HUMAN; KARYOTYPE; MALE; METAPHASE; MONOSOMY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; REVIEW; RING CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 80051993483     PISSN: 14248581     EISSN: 14219794     Source Type: Journal    
DOI: 10.1159/000329478     Document Type: Review
Times cited : (6)

References (31)
  • 3
    • 47349098111 scopus 로고    scopus 로고
    • Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification?
    • DOI 10.1002/ajmg.a.32387
    • Barber JC: Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification? Am J Med Genet 146A:1899-1901 (2008). (Pubitemid 352000736)
    • (2008) American Journal of Medical Genetics, Part A , vol.146 , Issue.14 , pp. 1899-1901
    • Barber, J.C.K.1
  • 5
    • 0019800346 scopus 로고
    • The cytogenetic and clinical implications of a ring chromosome 2
    • Côté GB, Katsantoni A, Deligeorgis D: The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 24: 231-235 (1981). (Pubitemid 12239363)
    • (1981) Annales de Genetique , vol.24 , Issue.4 , pp. 231-235
    • Cote, G.B.1    Katsantoni, A.2    Deligeorgis, D.3
  • 10
    • 0033837814 scopus 로고    scopus 로고
    • A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter
    • Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ: A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. Neurology 55: 335-340 (2000). (Pubitemid 30650071)
    • (2000) Neurology , vol.55 , Issue.3 , pp. 335-340
    • Higgins, J.J.1    Rosen, D.R.2    Loveless, J.M.3    Clyman, J.C.4    Grau, M.J.5
  • 11
    • 0021673191 scopus 로고
    • A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29)
    • Kitatani M, Takahashi H, Yasuda J, Chen CC, Ida F, Shike S: A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29). Jinrui Idengaku Zasshi 29: 157-162 (1984). (Pubitemid 15207214)
    • (1984) Japanese Journal of Human Genetics , vol.29 , Issue.2 , pp. 157-162
    • Kitatani, M.1    Takahashi, H.2    Yasuda, J.3
  • 13
    • 0023153582 scopus 로고
    • Does 'ring syndrome' exist? An analysis of 207 case reports on patients with a ring autosome
    • DOI 10.1007/BF00591082
    • Kosztolanyi G: Does 'ring syndrome' exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75: 174-179 (1987). (Pubitemid 17017714)
    • (1987) Human Genetics , vol.75 , Issue.2 , pp. 174-179
    • Kosztolanyi, G.1
  • 14
    • 0025276660 scopus 로고
    • Cornelia de Lange syndrome with ring chromosome 3
    • Lakshminarayana P, Nallasivam P: Cornelia de Lange syndrome with ring chromosome 3. J Med Genet 27: 405-406 (1990).
    • (1990) J Med Genet , vol.27 , pp. 405-406
    • Lakshminarayana, P.1    Nallasivam, P.2
  • 15
    • 0028220413 scopus 로고
    • Terminal deletion of the short arm of chromosome 3
    • Lizcano-Gil LA, Figuera LE: Terminal deletion of the short arm of chromosome 3. Genet Couns 5: 35-38 (1994). (Pubitemid 24096815)
    • (1994) Genetic Counseling , vol.5 , Issue.1 , pp. 35-38
    • Lizcano-Gil, L.A.1    Figuera, L.E.2
  • 16
    • 1642498214 scopus 로고    scopus 로고
    • Different patterns of gene silencing in position-effect variegation
    • DOI 10.1139/g03-070
    • Lloyd VK, Dyment D, Sinclair DA, Grigliatti TA: Different patterns of gene silencing in position-effect variegation. Genome 46: 1104-1117 (2003). (Pubitemid 38122451)
    • (2003) Genome , vol.46 , Issue.6 , pp. 1104-1117
    • Lloyd, V.K.1    Dyment, D.2    Sinclair, D.A.R.3    Grigliatti, T.A.4
  • 17
    • 38449084802 scopus 로고    scopus 로고
    • Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review
    • Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E: Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. Am J Med Genet 143A:2143-2149 (2007).
    • (2007) Am J Med Genet , vol.143 A , pp. 2143-2149
    • Malmgren, H.1    Sahlen, S.2    Wide, K.3    Lundvall, M.4    Blennow, E.5
  • 19
    • 0014009026 scopus 로고
    • Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome
    • Mukerjee D, Burdette WJ: Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome. Nature 212: 153-155 (1966).
    • (1966) Nature , vol.212 , pp. 153-155
    • Mukerjee, D.1    Burdette, W.J.2
  • 20
    • 0025166530 scopus 로고
    • Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
    • Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, et al: Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 35: 269-273 (1990). (Pubitemid 20052864)
    • (1990) American Journal of Medical Genetics , vol.35 , Issue.2 , pp. 269-273
    • Narahara, K.1    Kikkawa, K.2    Murakami, M.3    Hiramoto, K.4    Namba, H.5    Tsuji, K.6    Yokoyama, Y.7    Kimoto, H.8
  • 21
    • 0026457860 scopus 로고
    • Infant with del(3) (p25-pter): Karyotype-phenotype correlation and review of previously reported cases
    • Nienhaus H, Mau U, Zang KD: Infant with del(3) (p25-pter): Karyotype-phenotype correlation and review of previously reported cases. Am J Med Genet 44: 573-575 (1992).
    • (1992) Am J Med Genet , vol.44 , pp. 573-575
    • Nienhaus, H.1    Mau, U.2    Zang, K.D.3
  • 23
    • 75449083775 scopus 로고    scopus 로고
    • Terminal 3p deletions in two families-correlation between molecular karyotype and phenotype
    • Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H: Terminal 3p deletions in two families-correlation between molecular karyotype and phenotype. Am J Med Genet 152A:441-446 (2010).
    • (2010) Am J Med Genet , vol.152 A , pp. 441-446
    • Pohjola, P.1    De Leeuw, N.2    Penttinen, M.3    Kääriäinen, H.4
  • 24
    • 0344838490 scopus 로고    scopus 로고
    • Altered expression of CHL1 by glial cells in response to optic nerve injury and intravitreal application of fibroblast growth factor-2
    • DOI 10.1002/jnr.10533
    • Rolf B, Lang D, Hillenbrand R, Richter M, Schachner M, Bartsch U: Altered expression of CHL1 by glial cells in response to optic nerve injury and intravitreal application of fibroblast growth factor-2. J Neurosci Res 71: 835-843 (2003). (Pubitemid 36293004)
    • (2003) Journal of Neuroscience Research , vol.71 , Issue.6 , pp. 835-843
    • Rolf, B.1    Lang, D.2    Hillenbrand, R.3    Richter, M.4    Schachner, M.5    Bartsch, U.6
  • 26
    • 32444438094 scopus 로고    scopus 로고
    • Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit [2]
    • DOI 10.1002/ajmg.a.31066
    • Shrimpton AE, Jensen KA, Hoo JJ: Karyotypephenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit. Am J Med Genet 140: 388-391 (2006). (Pubitemid 43227655)
    • (2006) American Journal of Medical Genetics , vol.140 A , Issue.4 , pp. 388-391
    • Shrimpton, A.E.1    Jensen, K.A.2    Hoo, J.J.3
  • 27
    • 0033455622 scopus 로고    scopus 로고
    • Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'complete ring' syndrome
    • DOI 10.1002/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R
    • Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT: Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'complete ring' syndrome. Am J Med Genet 87: 384-390 (1999). (Pubitemid 30007720)
    • (1999) American Journal of Medical Genetics , vol.87 , Issue.5 , pp. 384-390
    • Sigurdardottir, S.1    Goodman, B.K.2    Rutberg, J.3    Thomas, G.H.4    Jabs, E.W.5    Geraghty, M.T.6
  • 28
    • 0025834417 scopus 로고
    • Ring chromosome 3 in a mentally retarded adult dwarf
    • Teyssier M, Piperno D, Charrin C: Ring chromosome 3 in a mentally retarded adult dwarf. Ann Genet 34: 33-36 (1991).
    • (1991) Ann Genet , vol.34 , pp. 33-36
    • Teyssier, M.1    Piperno, D.2    Charrin, C.3
  • 30
    • 0017876688 scopus 로고
    • Ring chromosome 3 in a retarded boy
    • Witkowski R, Ullrich E, Piede U: Ring chromosome 3 in a retarded boy. Hum Genet 42: 345-348 (1978). (Pubitemid 8372313)
    • (1978) Human Genetics , vol.42 , Issue.3 , pp. 345-348
    • Witkowski, R.1    Ullrich, E.2    Piede, U.3
  • 31
    • 18544386815 scopus 로고    scopus 로고
    • A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain
    • DOI 10.1007/s100380200073
    • Zeng L, Zhang C, Xu J, Ye X, Wu Q, et al: A novel splice variant of the cell adhesion molecule contactin 4 (cntn4) is mainly expressed in human brain. J Hum Genet 47: 497-499 (2002). (Pubitemid 34988288)
    • (2002) Journal of Human Genetics , vol.47 , Issue.9 , pp. 497-499
    • Zeng, L.1    Zhang, C.2    Xu, J.3    Ye, X.4    Wu, Q.5    Dai, J.6    Ji, C.7    Gu, S.8    Xie, Y.9    Mao, Y.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.