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Volumn 25, Issue 3, 2005, Pages 239-244

Prenatally detected trisomy 20 mosaicism

Author keywords

Amniocentesis; Mosaicism; Trisomy

Indexed keywords

AMNIOCENTESIS; AMNION FLUID; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; FETUS; FETUS DEATH; HUMAN; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; MALE; MEIOSIS; MULTIPLE MALFORMATION SYNDROME; OLIGOHYDRAMNIOS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX DIFFERENCE; STILLBIRTH; TRISOMY; TRISOMY 20; UNIPARENTAL DISOMY;

EID: 16444385090     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1121     Document Type: Article
Times cited : (37)

References (20)
  • 1
    • 0035865656 scopus 로고    scopus 로고
    • Placental abruption and perinatal mortality in the United States
    • Ananth CV, Wilcox AJ. 2001. Placental abruption and perinatal mortality in the United States. Am J Epidemiol 153(4): 332-337.
    • (2001) Am J Epidemiol , vol.153 , Issue.4 , pp. 332-337
    • Ananth, C.V.1    Wilcox, A.J.2
  • 2
    • 0027447719 scopus 로고
    • Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
    • Antonarakis S, Avramopoulus D, Blouin J-L, Talbot JC, Schinzel AA. 1993. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genet 3: 146-150.
    • (1993) Nature Genet , vol.3 , pp. 146-150
    • Antonarakis, S.1    Avramopoulus, D.2    Blouin, J.-L.3    Talbot, J.C.4    Schinzel, A.A.5
  • 3
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q-and the resulting changes in GNAS1 methylation - As a plausible cause of pseudohypoparathyroidism
    • Bastepe M, Lane AH, Juppner H. 2001. Paternal uniparental isodisomy of chromosome 20q-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68(5): 1283-1289.
    • (2001) Am J Hum Genet , vol.68 , Issue.5 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Juppner, H.3
  • 4
    • 0032787806 scopus 로고    scopus 로고
    • Maternal UPD 20 in a hyperactive child with severe growth retardation
    • Chudoba I, Franke Y, Senger G, et al. 1999. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 7(5): 533-540.
    • (1999) Eur J Hum Genet , vol.7 , Issue.5 , pp. 533-540
    • Chudoba, I.1    Franke, Y.2    Senger, G.3
  • 5
    • 0035105118 scopus 로고    scopus 로고
    • Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
    • Eggermann T, Mergenthaler S, Eggermann K, et al. 2001. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. J Med Genet 38(2): 86-89.
    • (2001) J Med Genet , vol.38 , Issue.2 , pp. 86-89
    • Eggermann, T.1    Mergenthaler, S.2    Eggermann, K.3
  • 6
    • 0029818072 scopus 로고    scopus 로고
    • Human aneuploidy: Incidence, origin and etiology
    • Hassold T, Abruzzo M, Adkins K, et al. 1996. Human aneuploidy: incidence, origin and etiology. Environ Mol Mutagen 28: 167-175.
    • (1996) Environ Mol Mutagen , vol.28 , pp. 167-175
    • Hassold, T.1    Abruzzo, M.2    Adkins, K.3
  • 8
    • 0025753402 scopus 로고
    • A revisit of trisomy 20 mosaicism in prenatal diagnosis - An overview of 103 cases
    • Hsu LYKS, Perlis TE. 1991. A revisit of trisomy 20 mosaicism in prenatal diagnosis-an overview of 103 cases. Prenat Diagn 11: 7-15.
    • (1991) Prenat Diagn , vol.11 , pp. 7-15
    • Hsu, L.Y.K.S.1    Perlis, T.E.2
  • 9
    • 0023429133 scopus 로고
    • Trisomy 20 mosaicism in prenatal diagnosis - A review and update
    • Hsu LYF, Kaffe S, Perlis TE. 1987. Trisomy 20 mosaicism in prenatal diagnosis-a review and update. Prenat Diagn 7: 581-596.
    • (1987) Prenat Diagn , vol.7 , pp. 581-596
    • Hsu, L.Y.F.1    Kaffe, S.2    Perlis, T.E.3
  • 11
    • 16944367292 scopus 로고    scopus 로고
    • A 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 IUGR
    • Robinson WP, Barrett IJ, Bernard L, et al. 1997. A 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 IUGR. 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
  • 12
    • 0028854976 scopus 로고
    • Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell seletion
    • Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. 1995. Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell seletion. 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
  • 13
    • 0035170103 scopus 로고    scopus 로고
    • Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
    • Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. 2001. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 21(10): 860-863.
    • (2001) Prenat Diagn , vol.21 , Issue.10 , pp. 860-863
    • Salafsky, I.S.1    MacGregor, S.N.2    Claussen, U.3    Von Eggeling, F.4
  • 14
    • 0021950805 scopus 로고
    • Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin
    • Vejerslev LO, Borlum KG, Jensen NK, Mikkelsen M. 1985. Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin. Clin Genet 27((3)): 263-268.
    • (1985) Clin Genet , vol.27 , Issue.3 , pp. 263-268
    • Vejerslev, L.O.1    Borlum, K.G.2    Jensen, N.K.3    Mikkelsen, M.4
  • 15
    • 18744405678 scopus 로고    scopus 로고
    • Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis
    • Velissariou V, Antoniadi T, Gyftodimou J, et al. 2002. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 10(11): 694-698.
    • (2002) Eur J Hum Genet , vol.10 , Issue.11 , pp. 694-698
    • Velissariou, V.1    Antoniadi, T.2    Gyftodimou, J.3
  • 16
    • 0347123258 scopus 로고    scopus 로고
    • Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
    • Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. 2004. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet 124A: 274-279.
    • (2004) Am J Med Genet , vol.124 A , pp. 274-279
    • Venditti, C.P.1    Hunt, P.2    Donnenfeld, A.3    Zackai, E.4    Spinner, N.B.5
  • 17
    • 17144449168 scopus 로고    scopus 로고
    • Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: Karyotype-phenotype correlations
    • Wallerstein R. Yu MT, Neu RL, et al. 2000. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenat Diagn 20: 103-122.
    • (2000) Prenat Diagn , vol.20 , pp. 103-122
    • Wallerstein, R.1    Yu, M.T.2    Neu, R.L.3
  • 18
    • 0025963447 scopus 로고
    • Low frequency of monosomy 20 mosaicism in a liveborn infant with minor dysmorphic features
    • Wallerstein DF, Wallerstein R, Watkins C. 1991. Low frequency of monosomy 20 mosaicism in a liveborn infant with minor dysmorphic features. Lancet 337((8744)): 803-804.
    • (1991) Lancet , vol.337 , Issue.8744 , pp. 803-804
    • Wallerstein, D.F.1    Wallerstein, R.2    Watkins, C.3
  • 19
    • 17144449168 scopus 로고    scopus 로고
    • Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: Karyotype-phenotype correlations
    • Wallerstein R, Yu MT, Neu RL, et al. 2000. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prental Diag 20: 103-122.
    • (2000) Prental Diag , vol.20 , pp. 103-122
    • Wallerstein, R.1    Yu, M.T.2    Neu, R.L.3
  • 20
    • 0033900096 scopus 로고    scopus 로고
    • Characterization of genomic alterations in hepatoblastomas. A role for gains on chromosomes 8q and 20 as predictors of poor outcome
    • Weber RG, Pietsch T, Schweinitz DV, Lichter P. 2000. Characterization of genomic alterations in hepatoblastomas. A role for gains on chromosomes 8q and 20 as predictors of poor outcome. Am J Pathol 157: 571-578.
    • (2000) Am J Pathol , vol.157 , pp. 571-578
    • Weber, R.G.1    Pietsch, T.2    Schweinitz, D.V.3    Lichter, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.