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Volumn 20, Issue 5, 2000, Pages 384-389

Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

Author keywords

Cryptic translocation; Fluorescence in situ hybridization (FISH); Prenatal diagnosis; Satellited non acrocentric chromosomes; X linked mental retardation

Indexed keywords

DNA;

EID: 0034102641     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200005)20:5<384::AID-PD817>3.0.CO;2-2     Document Type: Article
Times cited : (21)

References (38)
  • 2
    • 0033000118 scopus 로고    scopus 로고
    • X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate and glaucoma is linked to Xq28
    • Armfield K, Nelson R, Lubs HA, Häne B, Schroer RJ, Arena JF, Schwartz CE. Stevenson RE. 1999. X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate and glaucoma is linked to Xq28. Am J Med Genet 85: 236-242.
    • (1999) Am J Med Genet , vol.85 , pp. 236-242
    • Armfield, K.1    Nelson, R.2    Lubs, H.A.3    Häne, B.4    Schroer, R.J.5    Arena, J.F.6    Schwartz, C.E.7    Stevenson, R.E.8
  • 3
  • 4
    • 0042055027 scopus 로고
    • Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay
    • Babu VR, Roberson JR, Van Dyke DL, Weiss L. 1987. Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay. Am J Hum Genet 41 (Suppl): A113
    • (1987) Am J Hum Genet , vol.41 , Issue.SUPPL.
    • Babu, V.R.1    Roberson, J.R.2    Van Dyke, D.L.3    Weiss, L.4
  • 6
    • 0018665925 scopus 로고
    • Partial translation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus
    • Dev VG, Byrne J, Bunch G. 1979. Partial translation of NOR and its activity in a balanced carrier and in her cri-du-chat fetus. Hum Genet 51: 211-280.
    • (1979) Hum Genet , vol.51 , pp. 211-280
    • Dev, V.G.1    Byrne, J.2    Bunch, G.3
  • 7
    • 0003175008 scopus 로고
    • A satellited chromosome 2 detected at prenatal diagnosis
    • Elliott J, Barnes ICS. 1992. A satellited chromosome 2 detected at prenatal diagnosis. J Med Genet 29: 213
    • (1992) J Med Genet , vol.29 , pp. 213
    • Elliott, J.1    Barnes, I.C.S.2
  • 8
    • 0026640537 scopus 로고
    • A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf Hirschhorn syndrome phenotype
    • Estabrooks LL, Lamb AN, Kirkman HN, Callanan NP, Rao KW. 1992. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf Hirschhorn syndrome phenotype. Am J Hum Genet 51: 971-978.
    • (1992) Am J Hum Genet , vol.51 , pp. 971-978
    • Estabrooks, L.L.1    Lamb, A.N.2    Kirkman, H.N.3    Callanan, N.P.4    Rao, K.W.5
  • 10
    • 0025884456 scopus 로고
    • Localisation of the MRX3 gene for non-specific X linked mental retardation
    • Gedeon A, Kerr B, Mulley J. Turner G. 1991. Localisation of the MRX3 gene for non-specific X linked mental retardation. J Med Genet 28: 372-377.
    • (1991) J Med Genet , vol.28 , pp. 372-377
    • Gedeon, A.1    Kerr, B.2    Mulley, J.3    Turner, G.4
  • 11
    • 0026777774 scopus 로고
    • A submicroscopic translocation t(4;10), responsible for recurrent Wolf Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation
    • Goodship J, Curtis A, Cross I, Brown J. Emslie J, Wolstenholme J, Bhattacharya S, Burn J. 1992. A submicroscopic translocation t(4;10), responsible for recurrent Wolf Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. J Med Genet 29: 451-454.
    • (1992) J Med Genet , vol.29 , pp. 451-454
    • Goodship, J.1    Curtis, A.2    Cross, I.3    Brown, J.4    Emslie, J.5    Wolstenholme, J.6    Bhattacharya, S.7    Burn, J.8
  • 12
    • 0003238569 scopus 로고
    • Genotype phenotype correlation in satellited 1p chromosome: Importance of fluorescence in-situ hybridization (FISH) applications
    • Habibian R, Hajianpour MJ, Shaffer LG, Niedenard L, Hajianpour AK. 1994. Genotype phenotype correlation in satellited 1p chromosome: importance of fluorescence in-situ hybridization (FISH) applications. Am J Hum Genet 55 (Suppl.): A106
    • (1994) Am J Hum Genet , vol.55 , Issue.SUPPL.
    • Habibian, R.1    Hajianpour, M.J.2    Shaffer, L.G.3    Niedenard, L.4    Hajianpour, A.K.5
  • 15
    • 0026691292 scopus 로고
    • Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease
    • Ikonen E, Salo A, Somer M, Somer H, Päätkkönen L, Peltonen L. 1992. Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease. Am J Med Genet 43: 753-758.
    • (1992) Am J Med Genet , vol.43 , pp. 753-758
    • Ikonen, E.1    Salo, A.2    Somer, M.3    Somer, H.4    Päätkkönen, L.5    Peltonen, L.6
  • 16
    • 17344391961 scopus 로고    scopus 로고
    • Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations
    • Kalz-Füller B, Sleegers E, Schwanitz G, Schubert R. 1999. Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin Genet 55: 362-366.
    • (1999) Clin Genet , vol.55 , pp. 362-366
    • Kalz-Füller, B.1    Sleegers, E.2    Schwanitz, G.3    Schubert, R.4
  • 19
    • 0028198384 scopus 로고
    • The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes
    • Kvaløy K, Galvagni F, Brown WRA. 1994. The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum Mol Genet 3: 771-778.
    • (1994) Hum Mol Genet , vol.3 , pp. 771-778
    • Kvaløy, K.1    Galvagni, F.2    Brown, W.R.A.3
  • 23
  • 28
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • (Group 1): Flint J, Horsley S, Regan R, Kearney L, Knight S, Kvaloy K, Brown WRA (Group 2), National Institutes of Health and Institute of Molecular Medicine Collaboration
    • Ning Y, Roschke A, Smith ACM, Macha M, Precht K, Riethman H, Ledbetter DH (Group 1): Flint J, Horsley S, Regan R, Kearney L, Knight S, Kvaloy K, Brown WRA (Group 2), National Institutes of Health and Institute of Molecular Medicine Collaboration. 1996. A complete set of human telomeric probes and their clinical application. Nature Genet 14: 86-89.
    • (1996) Nature Genet , vol.14 , pp. 86-89
    • Ning, Y.1    Roschke, A.2    Smith, A.C.M.3    Macha, M.4    Precht, K.5    Riethman, H.6    Ledbetter, D.H.7
  • 29
    • 0026526250 scopus 로고
    • Linkage to Xq28 in a family with nonspecific X-linked mental retardation
    • Nordström A-M, Penttinen M, von Koskull H. 1992. Linkage to Xq28 in a family with nonspecific X-linked mental retardation. Hum Genet 90: 263-266.
    • (1992) Hum Genet , vol.90 , pp. 263-266
    • Nordström, A.-M.1    Penttinen, M.2    Von Koskull, H.3
  • 32
    • 0002801813 scopus 로고    scopus 로고
    • Sex chromosome and sex chromosome abnormalities
    • Gersen SL, Keagle MB (eds). Humana Press: Totowa
    • Powell CM. 1999. Sex chromosome and sex chromosome abnormalities. In The Principles of Clinical Cytogenetics, Gersen SL, Keagle MB (eds). Humana Press: Totowa; 229-258.
    • (1999) The Principles of Clinical Cytogenetics , pp. 229-258
    • Powell, C.M.1
  • 33
    • 0030070977 scopus 로고    scopus 로고
    • Familial Wolf Hirschhorn syndrome resulting from a cryptic translocation: A clinical and molecular study
    • Reid E, Morrison N, Barron L, Boyd E, Cooke A, Fielding D, Tolmie JL. 1996. Familial Wolf Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. J Med Genet 33: 197-202.
    • (1996) J Med Genet , vol.33 , pp. 197-202
    • Reid, E.1    Morrison, N.2    Barron, L.3    Boyd, E.4    Cooke, A.5    Fielding, D.6    Tolmie, J.L.7
  • 36
    • 0022505989 scopus 로고
    • Translocation of the nucleolus organizer region to the human X chromosome
    • Stetten G, Sroka B, Schmidt M, Axelman J, Migeon BR. 1986. Translocation of the nucleolus organizer region to the human X chromosome. Am J Hum Genet 39: 245-252.
    • (1986) Am J Hum Genet , vol.39 , pp. 245-252
    • Stetten, G.1    Sroka, B.2    Schmidt, M.3    Axelman, J.4    Migeon, B.R.5
  • 37
    • 0021277940 scopus 로고
    • Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome
    • Verellen-Dumoulin Ch, Freund M, De Meyer R, Laterre Ch, Frédéric J, Thompson MW, Markovic VD, Worton RG. 1984. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet 67: 115-119.
    • (1984) Hum Genet , vol.67 , pp. 115-119
    • Verellen-Dumoulin, Ch.1    Freund, M.2    De Meyer, R.3    Laterre, Ch.4    Frédéric, J.5    Thompson, M.W.6    Markovic, V.D.7    Worton, R.G.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.