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Volumn 41, Issue 5, 2008, Pages 368-372

Cryptic mosaicism involving a second chromosome X in patients with turner syndrome

Author keywords

Criptic mosaicism; DNA methylation; HUMARA assay; Turner syndrome; X inactivation

Indexed keywords

ANDROGEN RECEPTOR; ARGININE; CYTOSINE; GENOMIC DNA; GUANINE; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

EID: 48249090474     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2008000500004     Document Type: Article
Times cited : (14)

References (23)
  • 1
    • 0023930140 scopus 로고
    • Cytogenetic and molecu- lar analysis of sex-chromosome monosomy
    • Hassold T, Benham F, Leppert M. Cytogenetic and molecu- lar analysis of sex-chromosome monosomy. Am J Hum Genet 1988; 42: 534-541.
    • (1988) Am J Hum Genet , vol.42 , pp. 534-541
    • Hassold, T.1    Benham, F.2    Leppert, M.3
  • 3
    • 0029042695 scopus 로고
    • Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically
    • Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, et al. Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet 1995; 48: 6-11.
    • (1995) Clin Genet , vol.48 , pp. 6-11
    • Larsen, T.1    Gravholt, C.H.2    Tillebeck, A.3    Larsen, H.4    Jensen, M.B.5    Nielsen, J.6
  • 4
    • 0028900375 scopus 로고
    • Molecular biology of Turner's syndrome
    • Chu CE, Connor JM. Molecular biology of Turner's syndrome. Arch Dis Child 1995; 72: 285-286.
    • (1995) Arch Dis Child , vol.72 , pp. 285-286
    • Chu, C.E.1    Connor, J.M.2
  • 5
  • 6
    • 33646519677 scopus 로고    scopus 로고
    • Cellular memory and dynamic regulation of polycomb group proteins
    • Bantignies F, Cavalli G. Cellular memory and dynamic regulation of polycomb group proteins. Curr Opin Cell Biol 2006; 18: 275-283.
    • (2006) Curr Opin Cell Biol , vol.18 , pp. 275-283
    • Bantignies, F.1    Cavalli, G.2
  • 7
    • 0035228079 scopus 로고    scopus 로고
    • X-chromosome inactivation: Counting, choice and initiation
    • Avner P, Heard E. X-chromosome inactivation: counting, choice and initiation. Nat Rev Genet 2001; 2: 59-67.
    • (2001) Nat Rev Genet , vol.2 , pp. 59-67
    • Avner, P.1    Heard, E.2
  • 9
    • 0037059554 scopus 로고    scopus 로고
    • Chao W, Huynh KD, Spencer RJ, Davidow LS, Lee JT. CTCF, a candidate trans-acting factor for X-inactivation choice. Science 2002; 295: 345-347.
    • Chao W, Huynh KD, Spencer RJ, Davidow LS, Lee JT. CTCF, a candidate trans-acting factor for X-inactivation choice. Science 2002; 295: 345-347.
  • 10
    • 0021336558 scopus 로고
    • X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes
    • Disteche CM, Swisshelm K, Forbes S, Pagon RA. X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet 1984; 66: 71-76.
    • (1984) Hum Genet , vol.66 , pp. 71-76
    • Disteche, C.M.1    Swisshelm, K.2    Forbes, S.3    Pagon, R.A.4
  • 12
    • 0017347991 scopus 로고
    • Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use
    • Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977; 29: 94-97.
    • (1977) Am J Hum Genet , vol.29 , pp. 94-97
    • Hook, E.B.1
  • 13
    • 4744362277 scopus 로고    scopus 로고
    • TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype
    • Bartmann AK, Caetano LC, Rios AF, Vila RA, Ramos ES. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype. Am J Med Genet A 2004; 130: 320-321.
    • (2004) Am J Med Genet A , vol.130 , pp. 320-321
    • Bartmann, A.K.1    Caetano, L.C.2    Rios, A.F.3    Vila, R.A.4    Ramos, E.S.5
  • 14
    • 0026691249 scopus 로고
    • HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: An alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation
    • Olerup O, Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 1992; 39: 225-235.
    • (1992) Tissue Antigens , vol.39 , pp. 225-235
    • Olerup, O.1    Zetterquist, H.2
  • 15
    • 0025763762 scopus 로고
    • The parental origin of the single X chromosome in Turner syndrome: Lack of correlation with parental age or clinical phenotype
    • Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 1991; 48: 682-686.
    • (1991) Am J Hum Genet , vol.48 , pp. 682-686
    • Mathur, A.1    Stekol, L.2    Schatz, D.3    MacLaren, N.K.4    Scott, M.L.5    Lippe, B.6
  • 17
    • 0026800855 scopus 로고
    • Molecular studies of parental origin and mosaicism in 45,X conceptuses
    • Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet 1992; 89: 647-652.
    • (1992) Hum Genet , vol.89 , pp. 647-652
    • Hassold, T.1    Pettay, D.2    Robinson, A.3    Uchida, I.4
  • 19
    • 0032817336 scopus 로고    scopus 로고
    • High frequency of tissue-specific mosaicism in Turner syndrome patients
    • Nazarenko SA, Timoshevsky VA, Sukhanova NN. High frequency of tissue-specific mosaicism in Turner syndrome patients. Clin Genet 1999; 56: 59-65.
    • (1999) Clin Genet , vol.56 , pp. 59-65
    • Nazarenko, S.A.1    Timoshevsky, V.A.2    Sukhanova, N.N.3
  • 20
    • 0033810630 scopus 로고    scopus 로고
    • Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: A study of 'hidden' mosaicism
    • Fernandez-Garcia R, Garcia-Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of 'hidden' mosaicism. Clin Genet 2000; 58: 201-208.
    • (2000) Clin Genet , vol.58 , pp. 201-208
    • Fernandez-Garcia, R.1    Garcia-Doval, S.2    Costoya, S.3    Pasaro, E.4
  • 22
    • 0037154032 scopus 로고    scopus 로고
    • Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
    • Monroy N, Lopez M, Cervantes A, Garcia-Cruz D, Zafra G, Canun S, et al. Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes. Am J Med Genet 2002; 107: 181-189.
    • (2002) Am J Med Genet , vol.107 , pp. 181-189
    • Monroy, N.1    Lopez, M.2    Cervantes, A.3    Garcia-Cruz, D.4    Zafra, G.5    Canun, S.6
  • 23
    • 25644439293 scopus 로고    scopus 로고
    • Detection of low level sex chrpmosome mosaicism in Ullrich-Turner syndrome patients
    • Wiktor AE, Van Dyke DL. Detection of low level sex chrpmosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet A 2005; 138: 259-261.
    • (2005) Am J Med Genet A , vol.138 , pp. 259-261
    • Wiktor, A.E.1    Van Dyke, D.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.