메뉴 건너뛰기




Volumn 143, Issue 13, 2007, Pages 1489-1493

Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome

Author keywords

Chromosome 7; Duplication; Fluorescence in situ hybridization (FISH); Multicolor banding (mBAND); Silver Russell syndrome (SRS)

Indexed keywords

GROWTH FACTOR RECEPTOR BOUND PROTEIN 10;

EID: 34447339103     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31794     Document Type: Article
Times cited : (17)

References (33)
  • 3
    • 0033361899 scopus 로고    scopus 로고
    • A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans
    • Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. 1999. A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 64:1702-1708.
    • (1999) Am J Hum Genet , vol.64 , pp. 1702-1708
    • Brewer, C.1    Holloway, S.2    Zawalnyski, P.3    Schinzel, A.4    FitzPatrick, D.5
  • 4
    • 0022344675 scopus 로고
    • Trisomy 7p due to a mosaic normal/dir dup(7)(p13-p22). Syndrome delineation, critical segment assignment, and a comment on duplications
    • Cantu JM, Rivas F, Ruiz C, Barajas LO, Moller M, Rivera H. 1985. Trisomy 7p due to a mosaic normal/dir dup(7)(p13-p22). Syndrome delineation, critical segment assignment, and a comment on duplications. Ann Genet 28:254-257.
    • (1985) Ann Genet , vol.28 , pp. 254-257
    • Cantu, J.M.1    Rivas, F.2    Ruiz, C.3    Barajas, L.O.4    Moller, M.5    Rivera, H.6
  • 6
    • 0033053010 scopus 로고    scopus 로고
    • High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes
    • Chudoba I, Plesch A, Lorch T, Lemke J, Claussen U, Senger G. 1999. High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 84:156-160.
    • (1999) Cytogenet Cell Genet , vol.84 , pp. 156-160
    • Chudoba, I.1    Plesch, A.2    Lorch, T.3    Lemke, J.4    Claussen, U.5    Senger, G.6
  • 7
    • 2642564378 scopus 로고    scopus 로고
    • mBAND: A high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations
    • Chudoba I, Hickmann G, Friedrich T, Jauch A, Kozlowski P, Senger G. 2004. mBAND: A high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations. Cytogenet Genome Res 104:390-393.
    • (2004) Cytogenet Genome Res , vol.104 , pp. 390-393
    • Chudoba, I.1    Hickmann, G.2    Friedrich, T.3    Jauch, A.4    Kozlowski, P.5    Senger, G.6
  • 8
    • 0037093752 scopus 로고    scopus 로고
    • Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms
    • Cox H, Stewart H, Hall L, Donnai D. 2002. Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms. Am J Med Genet 109:306-310.
    • (2002) Am J Med Genet , vol.109 , pp. 306-310
    • Cox, H.1    Stewart, H.2    Hall, L.3    Donnai, D.4
  • 10
    • 0030459913 scopus 로고    scopus 로고
    • De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22 → 22.1)
    • Franz HB, Schliephacke M, Niemann G, Mielke G, Backsch C. 1996. De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22 → 22.1). Clin Genet 50:426-429.
    • (1996) Clin Genet , vol.50 , pp. 426-429
    • Franz, H.B.1    Schliephacke, M.2    Niemann, G.3    Mielke, G.4    Backsch, C.5
  • 12
    • 0035168178 scopus 로고    scopus 로고
    • A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
    • Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J. 2001. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 68:247-253.
    • (2001) Am J Hum Genet , vol.68 , pp. 247-253
    • Hannula, K.1    Lipsanen-Nyman, M.2    Kontiokari, T.3    Kere, J.4
  • 13
    • 0035131431 scopus 로고    scopus 로고
    • Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation the role for GRB10 in Silver-Russell syndrome
    • Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE. 2001a. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet 9:82-90.
    • (2001) Eur J Hum Genet , vol.9 , pp. 82-90
    • Hitchins, M.P.1    Monk, D.2    Bell, G.M.3    Ali, Z.4    Preece, M.A.5    Stanier, P.6    Moore, G.E.7
  • 14
    • 0035662379 scopus 로고    scopus 로고
    • Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosome regions
    • Hitchins MP, Stanier P, Preece MA, Moore GE. 2001b. Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosome regions. J Med Genet 38:810-819.
    • (2001) J Med Genet , vol.38 , pp. 810-819
    • Hitchins, M.P.1    Stanier, P.2    Preece, M.A.3    Moore, G.E.4
  • 15
    • 0032846736 scopus 로고    scopus 로고
    • Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
    • Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. 1999. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 105:273-280.
    • (1999) Hum Genet , vol.105 , pp. 273-280
    • Joyce, C.A.1    Sharp, A.2    Walker, J.M.3    Bullman, H.4    Temple, I.K.5
  • 16
    • 0033174755 scopus 로고    scopus 로고
    • Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases
    • Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS. 1999. Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases. J Korean Med Sci 14:373-376.
    • (1999) J Korean Med Sci , vol.14 , pp. 373-376
    • Kim, S.S.1    Jung, S.C.2    Kim, H.J.3    Moon, H.R.4    Lee, J.S.5
  • 17
    • 0028072102 scopus 로고
    • Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1 → p21.3)
    • Kleczkowska A, Decock P, van den Berghe H, Fryns JP. 1994. Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1 → p21.3). Genet Couns 5:393-397.
    • (1994) Genet Couns , vol.5 , pp. 393-397
    • Kleczkowska, A.1    Decock, P.2    van den Berghe, H.3    Fryns, J.P.4
  • 23
    • 0024418101 scopus 로고
    • Emerging phenotype of duplication (7p): A report of three cases and review of literature
    • Milunsky JM, Wyandt HE, Milunsky A. 1989. Emerging phenotype of duplication (7p): A report of three cases and review of literature. Am J Med Genet 33:364-368.
    • (1989) Am J Med Genet , vol.33 , pp. 364-368
    • Milunsky, J.M.1    Wyandt, H.E.2    Milunsky, A.3
  • 27
    • 0038277783 scopus 로고    scopus 로고
    • The genetics of Silver-Russell syndrome
    • Preece MA. 2002. The genetics of Silver-Russell syndrome. Rev Endocr Metab Disord 3:369-379.
    • (2002) Rev Endocr Metab Disord , vol.3 , pp. 369-379
    • Preece, M.A.1
  • 29
    • 0029994701 scopus 로고    scopus 로고
    • Redha MA, Krishna Murthy DS, al-Awadi SA, al-Sulaiman IS, Sabry /SNM> MA, el-Bahey SA, Farag TI. 1996. De novo direct duplication 7p (p11.2 → pter) in an Arab child with MCA/MR syndrome: Trisomy 7p a delineated syndrome? Ann Genet 39: 5-9.
    • Redha MA, Krishna Murthy DS, al-Awadi SA, al-Sulaiman IS, Sabry /SNM> MA, el-Bahey SA, Farag TI. 1996. De novo direct duplication 7p (p11.2 → pter) in an Arab child with MCA/MR syndrome: Trisomy 7p a delineated syndrome? Ann Genet 39: 5-9.
  • 31
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34:297-329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.