Have a personal or library account? Click to login
Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy) Cover

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

Open Access
|Jul 2023

References

  1. Tulay P, Ergoren MC, Alkaya A, Yayci E, Sag SO, Temel SG. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case. Glob Med Genet. 2020 Dec;7(4):128–132.
  2. Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL, Habiby R, Brickman WJ, Finlayson C. Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. J Pediatr Adolesc Gynecol. 2020 Feb;33(1):10–14.
  3. Zhang H, Zhang X, Yang M. Clinical case report: A case of Turner syndrome with Graves’ disease. Medicine (Baltimore). 2020 Mar;99(11):e19518.
  4. Libotte F, Carpineto SL, Dello Russo C, Viola A, Margiotti K, Restaldi F, Novelli A, Mesoraca A, Giorlandino C. Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations. J Med Life. 2020 Oct–Dec;13(4):624–628.
  5. Canto P, Galicia N, Söderlund D, Escudero I, Méndez JP. Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol. 2004 Jul 15;115(1):55–8.
  6. 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(5–6):254–261.
  7. Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, Lildballe DL, Vogel I. Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT. Front Genet. 2021 Sep 14;12:741752.
  8. Silva-Grecco RL, Trovó-Marqui AB, Sousa TA, Croce LD, Balarin MA. Identification of Y-Chromosome Sequences in Turner Syndrome. Indian J Pediatr. 2016 May;83(5):405–9.
  9. Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS. Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn. 2010 Jul;30(7):674–81.
  10. Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Clinical implementation of NIPT - technical and biological challenges. Clin Genet. 2016 May;89(5):523–30.
  11. Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R. Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review. Genes (Basel). 2021 Mar 29;12(4):501.
  12. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug;22(8):969–78.
  13. Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review. PLoS One. 2016 Jan 15;11(1):e0146794.
  14. Weidler EM, Pearson M, van Leeuwen K, Garvey E. Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. Semin Pediatr Surg. 2019 Oct;28(5):150841.
  15. Lindhardt Johansen M, Hagen CP, Rajpert-De Meyts E, Kjærgaard S, Petersen BL, Skakkebæk NE, Main KM, Juul A. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab. 2012 Aug;97(8):E1540–9.
  16. Reddy KS, Sulcova V. Pathogenetics of 45,X/46,XY gonadal mosaicism. Cytogenet Cell Genet. 1998;82(1–2):52–7.
  17. Bakoto N, Corman V, Legros JJ. Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. Ann Endocrinol (Paris). 2011 Feb;72(1):45–7.
  18. Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child. 1994 Nov;71(5):433–6.
  19. Hatano M, Fukuzawa R, Hasegawa Y. The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. Sex Dev. 2018;12(4):175–179.
  20. Rosa RF, D’Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, Paskulin GA, Zen PR. 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J. 2014 Dec;132(6):332–8.
  21. Rasouli M, McDaniel K, Awadalla M, Chung K. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Rep Obstet Gynecol. 2019 Apr 11;2019:3719178.
  22. Lebo R V, Novak R W, Wolfe K, Michelson M, Robinson H, Mancuso M S. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative , placental mosaic , and fetal mosaic cfDNA genotypes. Journal of Translational Medicine. 2015 Aug; 260(13):1–16.
  23. Hayata K, Hiramatsu Y, Masuyama H, Eto E, Mitsui T, Tamada S. Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review. Acta Med Okayama. 2017 Apr;71(2):181–185.
  24. Wolstenholme J, Evans J, English C. A 45,X fetus with false-negative 46,XX findings in CVS. Prenat Diagn. 2008 Mar;28(3):266–7.
  25. Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet. 1993 Sep;44(3):142–5.
  26. Serapinas D, Bartkeviciene D, Valantinaviciene E, Machtejeviene E. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism. Arch Argent Pediatr. 2016 Oct 1;114(5):e362–5. English, Spanish.
Language: English
Page range: 57 - 62
Published on: Jul 31, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2023 H. Cobanogullari, N. Akcan, M.C. Ergoren, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.