1. Turner HH. A Syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938;23:566–74.
2. Daggag H, Srour W, El-Khateeb M, Ajlouni K. Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities. Sex Dev 2013;7:295–302.
3. Canto P, Kofman-Alfaro S, Jiménez AL, Söderlund D, Barrón C, Reyes E, et al. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet Cytogenet 2004;150:70–2.
4. 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.
5. Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977;29:94–7.
6. 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.
7. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, et al. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992;75:1289–92.
8. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992;258:52–9.
10. Henegariu O, Heerema NA, Dlouhy SR, Vance GH, Vogt PH. Multiplex PCR: critical parameters and step-by-step protocol. Biotechniques 1997;23:504–11.
12. Butler E, Li R. Genetic Markers for Sex Identification in Forensic DNA Analysis. J Forensic Investig 2014;2:1–10.
13. Barbosa LG, Souza MA, Siviero-Miachon AA, Spinola-Castro AM. Y Chromosome sequences in Turner syndrome: multiplex PCR, a new method for diagnosis. J Genet Genome Res 2020;7:052.
14. Kizys MM, Cardoso MG, Lindsey SC, Harada MY, Soares FA, Melo MC, et al. Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed/paraffin-embedded tissues, and long-term stored blood samples. Arq Bras Endocrinol Metabol 2012;56:618–26.
15. Mendes JR, Strufaldi MW, Delcelo R, Moisés RC, Vieira JG, Kasamatsu TS, et al. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Clin Endocrinol (Oxf) 1999;50:19–26.
16. 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.
17. 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.
18. Rojek A, Obara-Moszynska M, Kolesinska Z, Rabska-Pietrzak B, Niedziela M. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev 2017;11:254–61.
19. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1–70.
20. Miclea DL, Grigorescu-Sido P, Bucerzan S, Pop IV. Y chromosome in Turner syndrome and FISH technique usefulness in cytogenetic diagnosis. Rev Romana de Medicina de Lab 2012;20:327–33.
21. Hanson L, Bryman I, Janson PO, Jakobsen AM, Hanson C. Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue. Hereditas 2002;137:1–6.
22. 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.
23. Scully RE. Gonadoblastoma. A review of 74 cases. Cancer 1970;25:1340–56.
24. Bianco B, Nunes 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.
25. Saenger P. Clinical review 48: The current status of diagnosis and therapeutic intervention in Turner's syndrome. J Clin Endocrinol Metab 1993;77:297–301.
26. Quilter CR, Taylor K, Conway GS, Nathwani N, Delhanty JD. Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome. Ann Hum Genet 1998;62(Pt 2):99–106.
27. Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH, et al. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 1999;36:279–84.
28. Nazarenko SA, Timoshevsky VA, Sukhanova NN. High frequency of tissue-specific mosaicism in Turner syndrome patients. Clin Genet 1999;56:59–65.
29. Canto P, de la Chesnaye E, López M, Cervantes A, Chávez B, Vilchis F, et al. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab 2000;85:1908–11.
30. Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, van Alfen-van der Velden JA, 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.
31. Ferrão L, Lopes ML, Limbert C, Marques B, Boieiro F, Silva M, et al. Pesquisa de sequências do cromossoma Y em indivíduos com síndroma de Turner [Screening for Y chromosome sequences in patients with Turner syndrome]. Acta Med Port 2002;15:89–100.