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TUNER SYNDROME

Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype

ORCID Icon, , , , , , , , & show all
Pages 377-381 | Received 23 Jul 2020, Accepted 15 Dec 2020, Published online: 28 Dec 2020

References

  • Gupta N, Goel H, Phadke SR. Unbalanced X; autosome translocation. Indian J Pediatr. 2006;73(9):840–842.
  • Kalz-Füller B, Sleegers E, Schwanitz G, et al. Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin Genet. 1999;55(5):362–366.
  • Waters JJ, Campbell PL, Crocker AJ, et al. Phenotypic effects of balanced X‐autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet. 2001;108(4):318–327.
  • Schmidt M, Du Sart D. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet. 1992;42(2):161–169.
  • Cardoso LC, Moraes L, Camilo MJ, et al. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. Eur J Med Genet. 2008;51(6):588–597.
  • Viljoen DL, Speleman F, Smart R, et al. Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization. Clin Genet. 1992;42(3):105–109.
  • West BR, Allen EF. Another previously described 21 monosomy case turns out to be an unbalanced translocation. Am J Med Genet. 1998;75(4):438–438.
  • Summitt RL, Martens PR, Wilroy RS Jr. X-autosome translocation in normal mother and effectively 21-monosomic daughter. J Pediatr. 1974;84(4):539–546.
  • Kumar J, Kumar R, Jayasudha T, et al. Application of fluorescence in situ hybridization (FISH) technique to discern complete/partial monosomy 21. Int J Hum Genet. 2011;11(3):177–182.
  • Cotton AM, Chen CY, Lam LL, et al. Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains. Hum Mol Genet. 2014;23(5):1211–1223.
  • Osiak L, Saraiva JG, Mestre VF, et al. Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations. Clin Dysmorphol. 2020;29(3):165–166.
  • Couturier J, Dutrillaux B, Garber P, et al. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum Genet. 1979;49(3):319–326.
  • Telvi L, Pinard JM, Ion R, et al. De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. J Med Genet. 1992;29(10):747–749.
  • Solari AJ, Rahn IM, Ferreyra ME, et al. The behavior of sex chromosomes in two human X-autosome translocations: failure of extensive X-inactivation spreading. Biocell. 2001;25(2):155–166.
  • McGowan-Jordan J, Simons A, Schmid M, editors. ISCN 2016: an international system for human cytogenomic nomenclature, 2016 edition. Basel: S. Karger; 2016.
  • Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961;190:372–373.
  • Rizzolio F, Bione S, Sala C, et al. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod. 2006;21(6):1477–1483.
  • Shelling AN. Premature ovarian failure. Reproduction. 2010;140(5):633–641.
  • Carrel L, Willard HF. Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A. 1999;96(13):7364–7369.
  • Goto Y, Kimura H. Inactive X chromosome-specific histone H3 modifications and CpG hypomethylation flank a chromatin boundary between an X-inactivated and an escape gene. Nucleic Acids Res. 2009;37(22):7416–7428.
  • Peeters SB, Cotton AM, Brown CJ. Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression. Bioessays. 2014;36(8):746–756.
  • Santos-Reboucas CB, Boy R, Vianna EQ, et al. Skewed X-chromosome inactivation and compensatory upregulation of escape genes precludes major clinical symptoms in a female with a large Xq deletion. Front Genet. 2020;11:101.
  • Popova BC, Tada T, Takagi N, et al. Attenuated spread of X-inactivation in an X;autosome translocation. Proc Natl Acad Sci U S A. 2006;103(20):7706–7711.
  • Hall LL, Clemson CM, Byron M, et al. Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin. Hum Mol Genet. 2002;11(25):3157–3165.

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