Ring chromosome 13 and sexual ambiguity: Case report
Vol. 6 No. 2 (2023), Case report
Vol. 6 No. 2 (2023)

Ring chromosome 13 and sexual ambiguity: Case report

Case report
https://doi.org/10.51766/ijre.v6i2.192
Published 2023-11-15
Sarah Berrada
CHU IBN ROCHD CASABLANCA
https://orcid.org/0000-0002-5285-6981
Amal Tazzite
Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco
https://orcid.org/0000-0002-9179-2650
Fatima Maarouf
Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco
Hind Dehbi
Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco 2-Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco

How to Cite

Berrada, S., Tazzite, A., Maarouf, . F., & Dehbi, . H. . (2023). Ring chromosome 13 and sexual ambiguity: Case report. (IJRE) International Journal of Research and Ethics (ISSN 2665-7481), 6(2). https://doi.org/10.51766/ijre.v6i2.192
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Abstract

Background: Ring chromosome 13 is a rare chromosomal disorder. Patients with this disorder may present with various clinical features depending on the deleted segments. Methods/Observation: Herein, we report a 3-years old boy with severe symptoms including a global development delay and sexual ambiguity. Karyotype analysis showed 46,XY,r(13). Conclusion: The patient is likely carrying 13q31-34 segments loss which could explain the observed phenotype. 

Keywords: Chromosome 13, deletion, ring chromosome, development delay, sexual disorder.

https://doi.org/10.51766/ijre.v6i2.192
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