Bianco et al . 99 Bianco B, Lipay MV, Melaragno MI, Guedes AD, Verreschi IT. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab. 2006;19:1113-7.
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45,X: n=7 |
Bianco et al . 1010 Bianco B, Lipay MV, Guedes AD, Verreschi IT. Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases. Fertil Steril. 2008;90(1197):e17-20.
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45,X/46,X,+mar: n=2; 45,X/45,X,add(15)(p11): n=1 |
Bianco et al . 1111 Bianco B, Lipay M, Guedes A, Oliveira K, Verreschi IT. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. Int J Gynecol Pathol. 2009;28:197-202.
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45,X: n=12; 45,X/46,X,+mar: n=2; 45,X/45,X,add(15)(p11): n=1; 45,X/46,X,r(?): n=1 |
Bianco et al . 1212 Bianco B, Oliveira KC, Guedes AD, Barbosa CP, Lipay MV, Verreschi IT. OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. Fertil Steril. 2010;94:2347-9.
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45,X: n=12; 45,X/46,X,+mar: n=2; 45,X/45,X,add(15)(p11): n=1; 45,X/46,X,r(?): n=1; 45,X/47,XXX: n=1 |
Barros et al . 33 Barros BA, Maciel-Guerra AT, De Mello MP, Coeli FB, Carvalho AB, Viguetti-Campos N, et al. A inclusão de novas técnicas de análise citogenética aperfeiçoou o diagnóstico cromossômico da síndrome de Turner. Arq Bras Endocrinol Metab. 2009;53:1137-42.
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45,X/46,X,+mar: n=5; 45,X: n=3; 45,X/46,X,r(?): n=2 |
Barros et al.1313 Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Maciel-Guerra AT, et al. OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences. Hum Reprod. 2011;26:3450-5.
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45,X: n=3; 45,X/46,XY: n=5; 45,X/46,X,+mar: n=5; 45,X/46,X,r(?): n=2; 45,X/47,XYY: n=1 |
Araújo et al.1414 Araujo C, Galera MF, Galera BB, Silvestre FG, Medeiros SF. Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome. Gynecol Endocrinol. 2008;24:713-7.
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45,X: n=2 |
Bispo et al . 1515 Bispo AV, Burégio-Frota P, Oliveira dos Santos L, Leal GF, Duarte AR, Araújo J, et al. Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case. Reprod Fertil Dev. 2014;26:1176-82.
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45,X/46,XY: n=2; 45,X: n=1; 45,X/46,XY: n=1; 46,X,i(Xq): n=1 |
Mazzanti et al . 1616 Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, et al. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet A. 2005;135:150-4.
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45,X/46,XY: n=6; 45,X: n=2; 45,X/46,X,idic(Y): n=3; 45,X/46,X,+mar: n=2; 45,X/46,XY/46,X,idic(Y): n=1 |
Semerci et al.1717 Semerci CN, Satiroglu-Tufan NL, Turan S, Bereket A, Tuysuz B, Yilmaz E, et al. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method. Tohoku J Exp Med. 2007;211:243-9.
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45,X: n=2 |
Sallai et al . 1818 Sallai A, Sólyom J, Dobos M, Szabó J, Halász Z, Ságodi L, et al. Y-chromosome markers in Turner syndrome: screening of 130 patients. J Endocrinol Invest. 2010;33:222-7.
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45,X: n=3; 45,X/46,XY: n=3; 45,X/46,X,+mar: n=2; 45,X/46,X,del(Xq): n=1 |
Cortés‐Gutiérrez et al.1919 Cortés-Gutiérrez EI, Herrera-Bartolo R, Dávila-Rodríguez MI, Palacios-Saucedo GC, Vargas-Villarreal J, Romero-Villarreal JB. Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome. Oncol Rep. 2012;28:1205-10.
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45,X/46,X,+mar: n=1; 45,X/46,XY: n=1; 45,X: n=1 |
Freriks et al . 2020 Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, van Alfen-van der Velden JAEM, et al. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Eur J Med Genet. 2013;56:497-501.
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45,X: n=5 |
Knauer‐Fischer et al . 2121 Knauer-Fischer S, Besikoglu B, Inta I, Kneppo C, Vogt PH, Bettendorf M. Analyses of gonadoblastoma Y (GBY)-locus and of Y centromere in Turner syndrome patients. Exp Clin Endocrinol Diabetes. 2015;123:61-5.
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45,X: n=2; 45,X/46,X,idicY(q11.2): n=2; 46,X,i(X)(q10): n=1; 46,X,del(X)(q12 ou q13.1): n=1; 46,X,der(X)t(X;Y)(p22.3;q11.21): n=1 |