메뉴 건너뛰기




Volumn 140, Issue 15, 2006, Pages 1647-1654

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)

Author keywords

17p; FISH; Microsatellite analysis; Trisomy

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

EID: 33746605165     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31330     Document Type: Article
Times cited : (10)

References (36)
  • 1
    • 0344507144 scopus 로고    scopus 로고
    • A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome
    • Balarin MA, da Silva Lopes VL, Varella-Garcia M. 1999. A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome. Am J Med Genet 82:183-186.
    • (1999) Am J Med Genet , vol.82 , pp. 183-186
    • Balarin, M.A.1    Da Silva Lopes, V.L.2    Varella-Garcia, M.3
  • 2
    • 0018288741 scopus 로고
    • Partial duplication of 17p. A new chromosomal syndrome
    • Bartsch-Sandhoff M. Hieronimi G. 1979. Partial duplication of 17p. A new chromosomal syndrome. Hum Genet 49:123-127.
    • (1979) Hum Genet , vol.49 , pp. 123-127
    • Bartsch-Sandhoff, M.1    Hieronimi, G.2
  • 3
    • 0036510167 scopus 로고    scopus 로고
    • Unraveling heterochromatin
    • Briggs SD, Strahl BD. 2002. Unraveling heterochromatin. Nat Genet 30:241-242.
    • (2002) Nat Genet , vol.30 , pp. 241-242
    • Briggs, S.D.1    Strahl, B.D.2
  • 4
    • 0029927224 scopus 로고    scopus 로고
    • Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
    • Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. 1996. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet 63:373-377
    • (1996) Am J Med Genet , vol.63 , pp. 373-377
    • Brown, A.1    Phelan, M.C.2    Patil, S.3    Crawford, E.4    Rogers, R.C.5    Schwartz, C.6
  • 5
    • 33746583386 scopus 로고    scopus 로고
    • Erratum appeared
    • (Erratum appeared in Am J Med Genet 65:254).
    • Am J Med Genet , vol.65 , pp. 254
  • 6
    • 0026734046 scopus 로고
    • Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
    • Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM. 1992. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology 42:2295-2299.
    • (1992) Neurology , vol.42 , pp. 2295-2299
    • Chance, P.F.1    Bird, T.D.2    Matsunami, N.3    Lensch, M.W.4    Brothman, A.R.5    Feldman, G.M.6
  • 7
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. 1994. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 8
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163.
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 9
    • 0033816931 scopus 로고    scopus 로고
    • Precarious acrocentric short arm in prenatal diagnosis: No chromosome 14 polymorphism, but trisomy 17p
    • De Pater JM, Van Tintelen JP, Stigter R, Brouwers HA, Scheres JM. 2000. Precarious acrocentric short arm in prenatal diagnosis: No chromosome 14 polymorphism, but trisomy 17p. Genet Couns 11:241-247.
    • (2000) Genet Couns , vol.11 , pp. 241-247
    • De Pater, J.M.1    Van Tintelen, J.P.2    Stigter, R.3    Brouwers, H.A.4    Scheres, J.M.5
  • 10
    • 0020567703 scopus 로고
    • De novo tandem duplication 17p11 leads to cen
    • Docherty Z, Hulten MA, Honeyman MM. 1983. De novo tandem duplication 17p11 leads to cen. J Med Genet 20:138-142.
    • (1983) J Med Genet , vol.20 , pp. 138-142
    • Docherty, Z.1    Hulten, M.A.2    Honeyman, M.M.3
  • 11
    • 0035475786 scopus 로고    scopus 로고
    • Lessons from the human genome: Transitions between euchromatin and heterochromatin
    • Horvath JE, Bailey JA, Locke DP, Eichler EE. 2001. Lessons from the human genome: Transitions between euchromatin and heterochromatin. Hum Mol Genet 10:2215-2223.
    • (2001) Hum Mol Genet , vol.10 , pp. 2215-2223
    • Horvath, J.E.1    Bailey, J.A.2    Locke, D.P.3    Eichler, E.E.4
  • 12
    • 0019980795 scopus 로고
    • Trisomy 17p due to a t(5;17)(p15;p11)pat translocation
    • Jinno Y, Matsuda I, Kajii T. 1982. Trisomy 17p due to a t(5;17)(p15;p11)pat translocation. Ann Genet 25:123-125.
    • (1982) Ann Genet , vol.25 , pp. 123-125
    • Jinno, Y.1    Matsuda, I.2    Kajii, T.3
  • 13
    • 0025750748 scopus 로고
    • De novo duplication of 17p [dup(17)(p12-p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects
    • Kozma C, Meek JM, Loomis KJ, Galindo HC. 1991. De novo duplication of 17p [dup(17)(p12-p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects. Am J Med Genet 41:446-450.
    • (1991) Am J Med Genet , vol.41 , pp. 446-450
    • Kozma, C.1    Meek, J.M.2    Loomis, K.J.3    Galindo, H.C.4
  • 15
    • 0016254620 scopus 로고
    • Trisomy of the short arm of chromosome 17
    • Latta E, Hoo JJ. 1974. Trisomy of the short arm of chromosome 17. Humangenetik 23:213-217.
    • (1974) Humangenetik , vol.23 , pp. 213-217
    • Latta, E.1    Hoo, J.J.2
  • 16
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 17
    • 0000907007 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth peripheral neuropaties and related disorders
    • Scriver CR, Beaudet AL, Valle D, editors. New York: McGraw-Hill
    • Lupski JR, Garcia CA. 2001. Charcot-Marie-Tooth peripheral neuropaties and related disorders. In: Scriver CR, Beaudet AL, Valle D, editors. The Metabolic & Molecular Bases of Inherited Diseases. Vol. IV. New York: McGraw-Hill. p 5759-5788.
    • (2001) The Metabolic & Molecular Bases of Inherited Diseases , vol.4 , pp. 5759-5788
    • Lupski, J.R.1    Garcia, C.A.2
  • 19
    • 0028815370 scopus 로고
    • Trisomy 17p11-pter: Unbalanced pericentric inversion, inv(17) (p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus
    • Lurie IW, Gurevich DB, Binkert F, Schinzel A. 1995. Trisomy 17p11-pter: Unbalanced pericentric inversion, inv(17) (p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus. Clin Dysmorphol 4:25-32.
    • (1995) Clin Dysmorphol , vol.4 , pp. 25-32
    • Lurie, I.W.1    Gurevich, D.B.2    Binkert, F.3    Schinzel, A.4
  • 20
    • 0022449202 scopus 로고
    • De novo partial duplication of 17p [dup(17)(p12-p11.2)]: Clinical report
    • Magenis RE, Brown MG, Allen L, Reiss J. 1986. De novo partial duplication of 17p [dup(17)(p12-p11.2)]: Clinical report. Am J Med Genet 24:415-420.
    • (1986) Am J Med Genet , vol.24 , pp. 415-420
    • Magenis, R.E.1    Brown, M.G.2    Allen, L.3    Reiss, J.4
  • 26
    • 0025073151 scopus 로고
    • Trisomy 17p due to a t(8;17)(p23;p11.2)pat translocation. Case report and review of the literature
    • Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. 1990. Trisomy 17p due to a t(8;17)(p23;p11.2)pat translocation. Case report and review of the literature. Clin Genet 37:148-152.
    • (1990) Clin Genet , vol.37 , pp. 148-152
    • Schrander-Stumpel, C.1    Schrander, J.2    Fryns, J.P.3    Hamers, G.4
  • 29
    • 0036842833 scopus 로고    scopus 로고
    • Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
    • Shaw CJ, Bi W, Lupski JR. 2002. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 71:1072-1081.
    • (2002) Am J Hum Genet , vol.71 , pp. 1072-1081
    • Shaw, C.J.1    Bi, W.2    Lupski, J.R.3
  • 32
  • 33
    • 33746639837 scopus 로고    scopus 로고
    • Erratum appeared
    • (Erratum appeared in Clin Genet 61:167
    • Clin Genet , vol.61 , pp. 167
  • 34
    • 33746657429 scopus 로고    scopus 로고
    • and Clin Genet 61:472).
    • Clin Genet , vol.61 , pp. 472


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.