DOUBLE ISOCHROMOSOME X, A RARE CYTOGENETIC VARIANT OF TURNER SYNDROME: A CASE REPORT AND A REVIEW OF THE LITERATURE
Zerrouki K.1,2, Babakhouya A.1,3, Tajir M.1,2
*Corresponding Author: Khawla Zerrouki; Address: Medical Genetics Laboratory, Mohammed VI University Hospital, BP 4806 Oujda University, 60049 Oujda, Morocco. Phone number: +212642540172; E-mail: khawlazerroukii@gmail.com
page: 4

REFERENCES

1. Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, et al. Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Vol. 11, Circulation. Genomic and precision medicine. NLM (Medline); 2018: p. e000048. 2. Ford, K W Jones Wales Ce, Polani Pisa Mrcp Pe, C De Almeida Brazil J H Briggs Mb Lond Dj. A Sex- Chromosome Anomaly In a Case Of Gonadal Dysgenesis (Turner’s Syndrome). Lancet. 1959; 711–713. 3. 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(3): G1–70. 4. Jaime L. Frı´as, MD, Marsha L. Davenport M. American Academy Of Pediatrics Clinical Report Health Supervision for Children With Turner Syndrome [Internet]. 2003. Available from: www.aappublications. org/news 5. Ferguson-Smith MA. Isochromosome. In: Brenner’s Encyclopedia of Genetics: Second Edition. Elsevier Inc. 2013; 138–138. 6. Gürsoy S, Erçal D. Turner Syndrome and Its Variants. J Pediatr Res. 2017; 171–5. 7. Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for turner Syndrome. Vol. 12, Genetics in Medicine. Nature Publishing Group. 2010; 52–5. 8. Howell RT, Roberts SH, Beard RJ. Dicentric X isochromosomes in man. J Med Genet. 1976; 496–500. 9. Melaragno MI, Fakih LMA, Cernach MCSP, Maccagnan P. Isodicentric X Chromosome and Mosaicism: Report on Two Cases of 45, X / 46, X, idic (Xq)/ 47, X, idic (Xq), idic (Xq) and Review of the Literature. Am J Med Genet. 1996 (359): 357–9. 10. Dimassi S, Tilla M, Sanlaville D. Anomalies chromosomiques. J Pediatr Pueric [Internet]. 2017;30(5–6):249–70. Available from: http://dx.doi. org/10.1016/j.jpp.2017.09.007 11. David J. A, R.J. McKinlay G. Chromosome Abnormalities and Genetic Counseling. 5th ed. 2018. 971 p. 12. Villa N, Conconi D, Benussi DG, Tornese G, Crosti F, Sala E, et al. A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning. Mol Cytogenet. 2017; 13: 10(1). 13. Ogata T. Turner Syndrome. Encycl LIFE Sci. 2001;(34 Pt 2):767–70. 14. Cabrol DS. Le Syndrome de Turner. Ann Endocrinol (Paris). 2007; 1–13. 15. Cuesta Hernández M, Rueda Valencia ME, Pérez Rodríguez O, López De Lara D. Isocromosomas X: diagnóstico tardío de síndrome de Turner. An Pediatr. 2014;82(1):e131–4. 16. Sun Y, Luo Y, Qian Y, Chen M, Wang L, Li H, et al. Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI. Front Genet. 2019; 10:1–9. 17. Sybert VP, Mccauley E. Turner’s Syndrome. N Engl J Med. 2004; 1227–38. 18. SATOSHI, YANACISA (Department of Pediatrics, Yamaguchi University School of Medicine, Ube J.), HIROSHI, YOKOYA(Department of Pediatrics, Yamaguchi University School of Medicine, Ube J. Symptoms of Turner’s Syndrome and interstitial heterochromatin in i ( Xq ). Clin Genet. 1975; 299–303. 19. Margaret M., Tilak P. and Rajangam S. 45,X/47,X,i(X) (q10),i(X)(q10)/46,X,i(X)(q10) Isochromosome Xq in Mosaic Turner SyndromeInt J Hum Genet. 2010; 10(1-3): 77-80. 20. Palmer C. G. and Reichmann A.Chromosomal and Clinical Findings in 110 Females with Turner Syndrome. Hum. Genet. 1976; 35: 35-49 . 21. Niebuhr E. and Skovby F. Cytogenetic studies in seven individuals with an i(Xq) karyotype.Hereditas. 1977; 86: 121-128. 22. Hsu L.Y. F., Paciuc S., David K., Cristian S., Moloshok R. and Hirschhorn K.Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism”.Journal ofMedical Genetics. 1978; 15: 222-226. 23. Huang, W. D. et al. “A Rare of Turner Syndrome with a Special Karyotype: A Case Report.” Clinical and Experimental Obstetrics and Gynecology. 2020; 47(1): 129–31



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