Ring chromosome 13 and sexual ambiguity: Case report

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.