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Volumn 6, Issue 3, 2004, Pages 132-135

FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients

Author keywords

Chromosomal mosaicism; Gonadoblastoma; Turner syndrome; X chromosome monosomy

Indexed keywords

ARTICLE; CHROMOSOME BANDING PATTERN; COST EFFECTIVENESS ANALYSIS; EVALUATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; ISOCHROMOSOME X; KARYOTYPE; KARYOTYPE 45,X; MAJOR CLINICAL STUDY; MOSAICISM; SENSITIVITY ANALYSIS; SEX CHROMOSOME MOSAICISM; TURNER SYNDROME; X CHROMOSOME ABERRATION; Y CHROMOSOME;

EID: 2642558850     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000127270.49902.56     Document Type: Article
Times cited : (24)

References (14)
  • 1
    • 2642572274 scopus 로고    scopus 로고
    • Clinical cytogenetics
    • McClatchey KD, editor. Baltimore: Williams & Wilkins
    • Van Dyke DL, Wiktor A. Clinical cytogenetics, In: McClatchey KD, editor. Clinical laboratory medicine. Baltimore: Williams & Wilkins, 2002:589-635.
    • (2002) Clinical Laboratory Medicine , pp. 589-635
    • Van Dyke, D.L.1    Wiktor, A.2
  • 2
    • 0026531326 scopus 로고
    • Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
    • Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E et al. Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992;88:299-294.
    • (1992) Hum Genet , vol.88 , pp. 299-294
    • Held, K.R.1    Kerber, S.2    Kaminsky, E.3    Singh, S.4    Goetz, P.5    Seemanova, E.6
  • 4
    • 2642563320 scopus 로고    scopus 로고
    • Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: A study of "hidden" mosaicism
    • Fernandez R, Garcia-Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of "hidden" mosaicism. Hum Genet 1996;58:210-208.
    • (1996) Hum Genet , vol.58 , pp. 210-208
    • Fernandez, R.1    Garcia-Doval, S.2    Costoya, S.3    Pasaro, E.4
  • 6
    • 0032485202 scopus 로고    scopus 로고
    • Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome
    • Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G et al. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 1998;760:120-124.
    • (1998) Am J Med Genet , vol.760 , pp. 120-124
    • Lopez, M.1    Canto, P.2    Aguinaga, M.3    Torres, L.4    Cervantes, A.5    Alfaro, G.6
  • 7
    • 0037110929 scopus 로고    scopus 로고
    • Detection of Y-specific sequences in patients with Turner syndrome
    • Hall JG. Detection of Y-specific sequences in patients with Turner syndrome. Am J Med Genet 2002;113:114.
    • (2002) Am J Med Genet , vol.113 , pp. 114
    • Hall, J.G.1
  • 8
    • 0036467258 scopus 로고    scopus 로고
    • Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
    • Nishi M, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AEC. Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method. Am J Med Genet 2002;107:209-305.
    • (2002) Am J Med Genet , vol.107 , pp. 209-305
    • Nishi, M.1    Domenice, S.2    Medeiros, M.A.3    Mendonca, B.B.4    Billerbeck, A.E.C.5
  • 9
    • 2642518468 scopus 로고    scopus 로고
    • Reply to correspondence from Hall: "Detection of Y-specific sequences on patients with Turner syndrome"
    • Nishi M, Domenice S, Medeiros MA, Mendonca B, Billerbeck AEC. Reply to correspondence from Hall: "Detection of Y-specific sequences on patients with Turner syndrome". Am J Med Genet 2002;113:115.
    • (2002) Am J Med Genet , vol.113 , pp. 115
    • Nishi, M.1    Domenice, S.2    Medeiros, M.A.3    Mendonca, B.4    Billerbeck, A.E.C.5
  • 12
    • 0036188731 scopus 로고    scopus 로고
    • Prenatal diagnosis of 45,X and 45,X mosaicism: The need for thorough cytogenetic and clinical evaluations
    • Huang B, Thangavelu M, Bhatt S, Sandlin CJ, Wang Shengbiao. Prenatal diagnosis of 45,X and 45,X mosaicism: The need for thorough cytogenetic and clinical evaluations. Prenat Diagn 2002;22:105-110.
    • (2002) Prenat Diagn , vol.22 , pp. 105-110
    • Huang, B.1    Thangavelu, M.2    Bhatt, S.3    Sandlin, C.J.4    Shengbiao, W.5
  • 14
    • 0017347991 scopus 로고    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 Med Genet 1997;29:94-97.
    • (1997) Am J Med Genet , vol.29 , pp. 94-97
    • Hook, E.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.