메뉴 건너뛰기




Volumn 120 A, Issue 1, 2003, Pages 44-48

Prenatal diagnosis of mosaic tetrasomy 8p

Author keywords

FISH; Mosaicism; Parental origin; Prenatal diagnosis; Tetrasomy 8p

Indexed keywords

DNA;

EID: 10744230541     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20199     Document Type: Article
Times cited : (7)

References (27)
  • 1
    • 0029052605 scopus 로고
    • Double autosomal/gonosomal mosaic aneuploidy: Study of nondisjunction in two cases with trisomy of chromosome 8
    • DeBrasi D, Genuardi M, D'Agostino A, Calvieri F, Tozzi C, Varrone S, Neri G. 1995. Double autosomal/gonosomal mosaic aneuploidy: Study of nondisjunction in two cases with trisomy of chromosome 8. Hum Genet 95:519-525.
    • (1995) Hum Genet , vol.95 , pp. 519-525
    • DeBrasi, D.1    Genuardi, M.2    D'Agostino, A.3    Calvieri, F.4    Tozzi, C.5    Varrone, S.6    Neri, G.7
  • 2
    • 0030012071 scopus 로고    scopus 로고
    • Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
    • Eggermann T, Engels H, Moskalonek B, Nothen MM, Muller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S. 1996. Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing. Hum Genet 97:568-572.
    • (1996) Hum Genet , vol.97 , pp. 568-572
    • Eggermann, T.1    Engels, H.2    Moskalonek, B.3    Nothen, M.M.4    Muller-Navia, J.5    Schleiermacher, E.6    Schwanitz, G.7    Stengel-Rutkowski, S.8
  • 3
    • 0027250654 scopus 로고
    • Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
    • Fisher AM, Barber JCK, Crolla JA, James RS, Lestas NA, Jennings I, Dennis NR. 1993. Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet 47:100-105.
    • (1993) Am J Med Genet , vol.47 , pp. 100-105
    • Fisher, A.M.1    Barber, J.C.K.2    Crolla, J.A.3    James, R.S.4    Lestas, N.A.5    Jennings, I.6    Dennis, N.R.7
  • 6
    • 0021798876 scopus 로고
    • The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome
    • Hunter AG, Clifford B, Cox DM. 1985. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet 28:47-53.
    • (1985) Clin Genet , vol.28 , pp. 47-53
    • Hunter, A.G.1    Clifford, B.2    Cox, D.M.3
  • 7
    • 0030049019 scopus 로고    scopus 로고
    • Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population
    • James RS, Jacobs PA. 1996. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet 97: 283-286.
    • (1996) Hum Genet , vol.97 , pp. 283-286
    • James, R.S.1    Jacobs, P.A.2
  • 8
    • 0024596935 scopus 로고
    • Placental mosaicism and intrauterine survival of trisomies 13 and 18
    • Kalousek DK, Barrett IJ, McGillivray BC. 1989. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44:338-343.
    • (1989) Am J Hum Genet , vol.44 , pp. 338-343
    • Kalousek, D.K.1    Barrett, I.J.2    McGillivray, B.C.3
  • 10
    • 0028242883 scopus 로고
    • Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues
    • Klein J, Graham JM, Platt LD, Schreck R. 1994. Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues. Prenat Diagn 14:451-454.
    • (1994) Prenat Diagn , vol.14 , pp. 451-454
    • Klein, J.1    Graham, J.M.2    Platt, L.D.3    Schreck, R.4
  • 11
    • 0023786330 scopus 로고
    • Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/46,XY
    • Kristofferson U, Lagergren J, Heim S, Mandahl N. 1988. Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/46,XY. Clin Genet 34:201-203.
    • (1988) Clin Genet , vol.34 , pp. 201-203
    • Kristofferson, U.1    Lagergren, J.2    Heim, S.3    Mandahl, N.4
  • 13
    • 0030723730 scopus 로고    scopus 로고
    • Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature
    • Napoleone RM, Varela M, Andersson HC. 1997. Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature. Am J Med Genet 73:330-333.
    • (1997) Am J Med Genet , vol.73 , pp. 330-333
    • Napoleone, R.M.1    Varela, M.2    Andersson, H.C.3
  • 15
    • 0026514602 scopus 로고
    • Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: Relevance for prenatal diagnosis
    • Priest JH, Rust JM, Fernhoff PM. 1992. Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: Relevance for prenatal diagnosis. Am J Med Genet 42:820-824.
    • (1992) Am J Med Genet , vol.42 , pp. 820-824
    • Priest, J.H.1    Rust, J.M.2    Fernhoff, P.M.3
  • 16
    • 0022726038 scopus 로고
    • On the origin of extra isochromosomes
    • Rivera H, Rivas F, Cantu JM. 1986. On the origin of extra isochromosomes. Clin Genet 29:540-540.
    • (1986) Clin Genet , vol.29 , pp. 540-540
    • Rivera, H.1    Rivas, F.2    Cantu, J.M.3
  • 18
    • 0028854976 scopus 로고
    • Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain and loss and possible role of cell selection
    • Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. 1995. Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain and loss and possible role of cell selection. Am J Hum Genet 56:444-451.
    • (1995) Am J Hum Genet , vol.56 , pp. 444-451
    • Robinson, W.P.1    Binkert, F.2    Bernasconi, F.3    Lorda-Sanchez, I.4    Werder, E.A.5    Schinzel, A.A.6
  • 19
    • 16944367292 scopus 로고    scopus 로고
    • Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
    • Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Pebbles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
    • (1997) Am J Hum Genet , vol.60 , pp. 917-927
    • Robinson, W.P.1    Barrett, I.J.2    Bernard, L.3    Telenius, A.4    Bernasconi, F.5    Wilson, R.D.6    Best, R.G.7    Howard-Pebbles, P.N.8    Langlois, S.9    Kalousek, D.K.10
  • 20
    • 0025062739 scopus 로고
    • Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review
    • Roskes EJ, Boughman JA, Schwartz S, Cohen MM. 1990. Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review. Clin Genet 38:198-210.
    • (1990) Clin Genet , vol.38 , pp. 198-210
    • Roskes, E.J.1    Boughman, J.A.2    Schwartz, S.3    Cohen, M.M.4
  • 23
    • 0032954313 scopus 로고    scopus 로고
    • Parental origin of the isochromosome 12p in Pallister-Killian syndrome: Molecular analysis of one patient and review of the reported cases
    • Struthers JL, Cuthbert CD, Khalifa MM. 1999. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: Molecular analysis of one patient and review of the reported cases. Am J Med Genet 84:111-115.
    • (1999) Am J Med Genet , vol.84 , pp. 111-115
    • Struthers, J.L.1    Cuthbert, C.D.2    Khalifa, M.M.3
  • 25
    • 0023369619 scopus 로고
    • Parental age, and how extra isochromosomes (secondary trisomy) arise
    • Van Dyke DL, Babu VR, Weiss L. 1987. Parental age, and how extra isochromosomes (secondary trisomy) arise. Clin Genet 32:75-80.
    • (1987) Clin Genet , vol.32 , pp. 75-80
    • Van Dyke, D.L.1    Babu, V.R.2    Weiss, L.3
  • 26
    • 0031854490 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells
    • Webb AL, Wolstenholme J, Evans J, Macphail S, Goodship J. 1998. Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. Prenat Diagn 18:737-741.
    • (1998) Prenat Diagn , vol.18 , pp. 737-741
    • Webb, A.L.1    Wolstenholme, J.2    Evans, J.3    Macphail, S.4    Goodship, J.5
  • 27
    • 0028829609 scopus 로고
    • Mosaic "tetrasomy" 8p: Case report and review of the literature
    • Winters J, Markello T, Nance W, Jackson-Cook C. 1995. Mosaic "tetrasomy" 8p: Case report and review of the literature. Clin Genet 48:195-198.
    • (1995) Clin Genet , vol.48 , pp. 195-198
    • Winters, J.1    Markello, T.2    Nance, W.3    Jackson-Cook, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.