98
Views
11
CrossRef citations to date
0
Altmetric
Turner Syndrome

Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome

, , , &
Pages 713-717 | Received 05 Jun 2008, Accepted 01 Sep 2008, Published online: 07 Jul 2009

References

  • Mancilla E E, Poggi H, Repetto G, Rumié H, García H, Ugarte F, Hidalgo S, Jara A, Muzzo S, Panteón E, et al. Y Chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma. J Pediatr Endocrinol Metab 2003; 16: 1157–1163
  • Gravholt C H, Fedder J, Naeraa R W, Müller J. Occurrence of gonadoblastoma in females with Turner Syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000; 85: 199–202
  • Mendes J RT, Strufaldi M WL, Delcelo R, Moisés R CMS, Vieira J G, Kasamatsu T S, Galera M F, Andrade J AD, Verrechi I TN. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Clin Endocrinol 1999; 50: 19–26
  • Kocova M, Siegel S F, Wenger S L, Lee P A, Truco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 1993; 342: 140–143
  • Bianco B, Lipay M VN, Melaragno M I, Guedes A D, Verreschi I T. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab 2006; 19: 1113–1117
  • Medlej R, Lobaccaro J M, Berta P C, Belon B, Leheup J E, Toublanc J, Weill C, Chevalier R. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 1992; 75: 1289–1291
  • Canto P, Chesnaye E, López M, Cervantes A, Chaves B, Vilchis F, Reyes E, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez J P. 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: 1908–1911
  • Moorhead P S, Nowel P C, Mellman W J, Battips, Hungerford D A. Chromosome preparations of leukocytes cultured form human peripheral blood. Exp Cell Res 1960; 20: 613–616
  • Lahiri D K, Nurnberg J I. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 1991; 19: 5444
  • Binder G, Koch A, Wajs E, Ranke M B. Nested polymerase chain reaction study of 53 cases with Turner syndrome: is cytogenetically undetected Y mosaicism common. J Clin Endocrinol Metab 1995; 80: 3532–3536
  • Semerci C N, Satiroglu-Tufan N L, Turan S, Bereket A, Tuysuz B, Yilmaz E, Kayserili H, Karaman B, Semiz S, Duzcan F, et al. Detection of Y chromosomal material in patients with a 45, X karyotype by PCR method. Tohoku J Exp Med 2007; 211: 243–249
  • Nishi M Y, Domenice S, Medeiros M A, Berenice B, Mendonca A E, Billerbeck C. Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Am J Med Genet 2002; 15: 113–117
  • Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Méndez J P, Kofmano-Alfaro S. Frequency of Y chromosomal material in Mexicans patients with Ullrich–Turner syndrome. Am J Med Genet 1998; 76: 120–124
  • Vlasak I, Plochl E, Kronberger G, Bergendi E, Rittinger O, Hagemann M, Schmitt K, Blümel P, Glatzl J, Fekete G, et al. Screening of patients with Turner syndrome for “hidden” Y-mosaicism. Klin Padiatr 1991; 211: 30–34
  • Quilter C R, Taylor K, Conway G S, Nathwani N, Delhanty A. Cytogenetic and molecular investigation of Y chromosome sequences and their role in Turner syndrome. Ann Hum Genet 1998; 45: 99–106
  • Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R. Gonadoblastoma in Turner syndrome and Y-chromosome derived material. Am J Med Genet 2005; 135: 150–154
  • Nazarenko S A, Timoshevsky V A, Sukhanova N N, Timoshevsky V A. High frequency of tissue specific mosaicism in Turner syndrome patients. Clin Genet 1999; 56: 59–65
  • Osipova G R, Karmanov M E, Kozlova S I, Evgrafov O V. PCR detection of Y specifics sequences in patients with Ullrich–Turner syndrome: clinical implications and limitations. Am J Med Genet 1998; 76: 283–287
  • Alvarez-Nava F, Soto M, Sanchez M A. Molecular analysis in Turner syndrome. J Pediatr 2003; 89: 336–339

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.