메뉴 건너뛰기




Volumn 25, Issue 1, 2005, Pages 73-78

Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH

Author keywords

Chromosome 8; Multicolor fluorescence in situ hybridization (MFISH); Prenatal diagnosis; Supernumerary marker chromosome (SMC)

Indexed keywords

ARTICLE; C BANDING; CASE REPORT; CENTROMERE; CHROMOSOME 8; CHROMOSOME G BAND; CHROMOSOME MOSAICISM; DEVELOPMENTAL DISORDER; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HUMAN; KARYOTYPE; LYMPHOCYTE; MARKER CHROMOSOME; MENTAL DEVELOPMENT; MULTICOLOR FLUORESCENCE IN SITU HYBRIDIZATION; PHENOTYPE; PHYSICAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME;

EID: 13244255702     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1087     Document Type: Article
Times cited : (2)

References (29)
  • 1
    • 0028928274 scopus 로고
    • Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis
    • Amiel A, Fejgin M, Appelman Z, et al. 1995. Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol 59(1): 103-107.
    • (1995) Eur J Obstet Gynecol Reprod Biol , vol.59 , Issue.1 , pp. 103-107
    • Amiel, A.1    Fejgin, M.2    Appelman, Z.3
  • 2
    • 0027485183 scopus 로고
    • Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH)
    • Blennow E, Anneren G, Bui TH, Beggren E, Asadi E, Nordenskjo LDM. 1993. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53: 433-442.
    • (1993) Am J Hum Genet , vol.53 , pp. 433-442
    • Blennow, E.1    Anneren, G.2    Bui, T.H.3    Beggren, E.4    Asadi, E.5    Nordenskjo, L.D.M.6
  • 3
    • 0029004732 scopus 로고
    • 10-Year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples
    • Brondum-Nielsen K, Mikkelsen MA. 1995. 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat Diagn 15(7): 615-619.
    • (1995) Prenat Diagn , vol.15 , Issue.7 , pp. 615-619
    • Brondum-Nielsen, K.1    Mikkelsen, M.A.2
  • 4
    • 0029049456 scopus 로고
    • Identification of a ring chromosome as a ring 8 using fluorescence in situ hybridization (FISH) in a child with multiple congenital anomalies
    • Butler MG, Roback EW, Allen GA, Dev VG. 1995. Identification of a ring chromosome as a ring 8 using fluorescence in situ hybridization (FISH) in a child with multiple congenital anomalies. Am J Med Genet 57: 494-495.
    • (1995) Am J Med Genet , vol.57 , pp. 494-495
    • Butler, M.G.1    Roback, E.W.2    Allen, G.A.3    Dev, V.G.4
  • 5
    • 0032477707 scopus 로고    scopus 로고
    • FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
    • Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 75: 367-381.
    • (1998) Am J Med Genet , vol.75 , pp. 367-381
    • Crolla, J.A.1
  • 6
    • 0026672009 scopus 로고
    • A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man
    • Crolla JA, Dennis NR, Jacobs PA. 1992. A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J Med Genet 29(10): 699-703.
    • (1992) J Med Genet , vol.29 , Issue.10 , pp. 699-703
    • Crolla, J.A.1    Dennis, N.R.2    Jacobs, P.A.3
  • 7
    • 0042320679 scopus 로고    scopus 로고
    • A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15
    • Daniel A, Malafiej P. 2003. A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. Am J Med Genet 117A: 212-222.
    • (2003) Am J Med Genet , vol.117 A , pp. 212-222
    • Daniel, A.1    Malafiej, P.2
  • 9
    • 0021229263 scopus 로고
    • Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses
    • Ferguson-Smith MA, Yates JR. 1984. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses. Prenat Diagn 4 Spec No: 5-44.
    • (1984) Prenat Diagn , vol.4 , Issue.SPEC. NO. , pp. 5-44
    • Ferguson-Smith, M.A.1    Yates, J.R.2
  • 10
    • 0029944077 scopus 로고    scopus 로고
    • Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples
    • Fisher AM, Cockwell AE, Moore KJ, et al. 1996. Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn 16: 615-621.
    • (1996) Prenat Diagn , vol.16 , pp. 615-621
    • Fisher, A.M.1    Cockwell, A.E.2    Moore, K.J.3
  • 11
    • 0028815533 scopus 로고
    • Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children
    • Gravholt CH, Friedrich U. 1995. Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. Am J Med Genet 56: 106-111.
    • (1995) Am J Med Genet , vol.56 , pp. 106-111
    • Gravholt, C.H.1    Friedrich, U.2
  • 12
    • 0032950169 scopus 로고    scopus 로고
    • Prenatal detection of extra structurally abnormal chromosomes (ESACs): New cases and a review of the literature
    • Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS. 1999. Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature. Prenat Diagn 19: 436-445.
    • (1999) Prenat Diagn , vol.19 , pp. 436-445
    • Hastings, R.J.1    Nisbet, D.L.2    Waters, K.3    Spencer, T.4    Chitty, L.S.5
  • 13
    • 3042801614 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers
    • Herry A, Morel F, Le Bris MJ, et al. 2004. Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers. Am J Med Genet 128A(1): 33-38.
    • (2004) Am J Med Genet , vol.128 A , Issue.1 , pp. 33-38
    • Herry, A.1    Morel, F.2    Le Bris, M.J.3
  • 14
    • 0033961427 scopus 로고    scopus 로고
    • Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis
    • Li MM, Howard-Peebles PN, Killos LD, Fallon L, Listgarten E, Stanley WS. 2000. Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis. Prenat Diagn 20(2): 138-143.
    • (2000) Prenat Diagn , vol.20 , Issue.2 , pp. 138-143
    • Li, M.M.1    Howard-Peebles, P.N.2    Killos, L.D.3    Fallon, L.4    Listgarten, E.5    Stanley, W.S.6
  • 15
    • 0028265078 scopus 로고
    • Identification of a small supernumerary ring chromosome 8 by fluorescence in situ hybridization in a child with developmental delay and minor anomalities
    • Melnyk AR, Dewald G. 1994. Identification of a small supernumerary ring chromosome 8 by fluorescence in situ hybridization in a child with developmental delay and minor anomalities. Am J Med Genet 50: 12-14.
    • (1994) Am J Med Genet , vol.50 , pp. 12-14
    • Melnyk, A.R.1    Dewald, G.2
  • 16
    • 0028073694 scopus 로고
    • A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p
    • Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y. 1994. A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p. Am J Hum Genet 55: 1202-1208.
    • (1994) Am J Hum Genet , vol.55 , pp. 1202-1208
    • Ohashi, H.1    Wakui, K.2    Ogawa, K.3    Okano, T.4    Niikawa, N.5    Fukushima, Y.6
  • 17
    • 0027184219 scopus 로고
    • Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization
    • Plattner R, Heerma NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG. 1993. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet 91: 589-598.
    • (1993) Hum Genet , vol.91 , pp. 589-598
    • Plattner, R.1    Heerma, N.A.2    Howard-Peebles, P.N.3    Miles, J.H.4    Soukup, S.5    Palmer, C.G.6
  • 19
    • 0030770720 scopus 로고    scopus 로고
    • Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update
    • Rothenmund H, Chudley AE, Dawson AJ. 1997. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update. Am J Med Genet 72(3): 339-342.
    • (1997) Am J Med Genet , vol.72 , Issue.3 , pp. 339-342
    • Rothenmund, H.1    Chudley, A.E.2    Dawson, A.J.3
  • 20
    • 0023153251 scopus 로고
    • Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies
    • Sachs ES, Van Hemel JO, Den Hollander JC, Jahoda MG. 1987. Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat Diagn 7(2): 81-89.
    • (1987) Prenat Diagn , vol.7 , Issue.2 , pp. 81-89
    • Sachs, E.S.1    Van Hemel, J.O.2    Den Hollander, J.C.3    Jahoda, M.G.4
  • 21
    • 0029064651 scopus 로고
    • Cryptorchidism and marker chromosomes: Identification of marker chromosomes by fluorescence in situ hybridization
    • Sasagawa I, Nakada T, Ishigooka M, Tomaru M, Sawamura T, Tateno T. 1995. Cryptorchidism and marker chromosomes: identification of marker chromosomes by fluorescence in situ hybridization. Urol Int 55: 25-28.
    • (1995) Urol Int , vol.55 , pp. 25-28
    • Sasagawa, I.1    Nakada, T.2    Ishigooka, M.3    Tomaru, M.4    Sawamura, T.5    Tateno, T.6
  • 22
    • 2642683176 scopus 로고    scopus 로고
    • Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
    • Schrock E, Veldman T, Padilla-Nash H, et al. 1997. Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101: 255-262.
    • (1997) Hum Genet , vol.101 , pp. 255-262
    • Schrock, E.1    Veldman, T.2    Padilla-Nash, H.3
  • 23
    • 0001242948 scopus 로고    scopus 로고
    • Multicolor-FISH-the identification of chromosome aberrations by 24 colors
    • Senger G, Chudoba I, Plesch A. 1998. Multicolor-FISH-the identification of chromosome aberrations by 24 colors. Bioforum 9: 499-503.
    • (1998) Bioforum , vol.9 , pp. 499-503
    • Senger, G.1    Chudoba, I.2    Plesch, A.3
  • 24
    • 0028881676 scopus 로고
    • Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism
    • Spinner NB, Grace KR, Owens NL, et al. 1995. Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. Am J Med Genet 56: 22-24.
    • (1995) Am J Med Genet , vol.56 , pp. 22-24
    • Spinner, N.B.1    Grace, K.R.2    Owens, N.L.3
  • 25
    • 10744232485 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
    • Starke H, Nietzel A, Weise A, et al. 2003. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114(1): 51-67.
    • (2003) Hum Genet , vol.114 , Issue.1 , pp. 51-67
    • Starke, H.1    Nietzel, A.2    Weise, A.3
  • 26
    • 0032722329 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8
    • Starke H, Schreyer I, Kahler C, et al. 1999. Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8. Prenat Diagn 19(12): 1169-1174.
    • (1999) Prenat Diagn , vol.19 , Issue.12 , pp. 1169-1174
    • Starke, H.1    Schreyer, I.2    Kahler, C.3
  • 27
    • 0033983677 scopus 로고    scopus 로고
    • Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation
    • Thilaganathan B, Sairam S, Ballard T, Peterson C, Meredith R. 2000. Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation. Br J Obstet Gynaecol 107(2): 262-266.
    • (2000) Br J Obstet Gynaecol , vol.107 , Issue.2 , pp. 262-266
    • Thilaganathan, B.1    Sairam, S.2    Ballard, T.3    Peterson, C.4    Meredith, R.5
  • 28
    • 0033362090 scopus 로고    scopus 로고
    • Multiplex-FISH for pre- and postnatal diagnostic applications
    • Uhrig S, Schuffenhauer S, Fauth C, et al 1999. Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet 65(2): 448-462.
    • (1999) Am J Hum Genet , vol.65 , Issue.2 , pp. 448-462
    • Uhrig, S.1    Schuffenhauer, S.2    Fauth, C.3
  • 29
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Med Genet 49: 995-1013.
    • (1991) Am J Med Genet , vol.49 , pp. 995-1013
    • Warburton, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.