Milenkovic, T. (55889872600)T. (55889872600)MilenkovicGuc-Scekic, M. (6602359789)M. (6602359789)Guc-ScekicZdravkovic, D. (7004544358)D. (7004544358)ZdravkovicTopic, V. (57224327167)V. (57224327167)TopicLiehr, T. (56404741200)T. (56404741200)LiehrJoksic, G. (6603704157)G. (6603704157)JoksicRadivojevic, D. (12769357500)D. (12769357500)RadivojevicLakic, N. (35386377100)N. (35386377100)Lakic2025-06-122025-06-122011https://doi.org/10.2478/v10034-011-0049-5https://www.scopus.com/inward/record.uri?eid=2-s2.0-83655190738&doi=10.2478%2fv10034-011-0049-5&partnerID=40&md5=35e447a38ae40f662601d4ffc65fdce2https://remedy.med.bg.ac.rs/handle/123456789/10056Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of cells monosomic for the X-chromosome, but also by the presence of severe GH deficiency. The ring Y chromosome in our patient is a de novo structural aberration. The father's karyotype was normal.Growth hormone (GH) deficiencyMixed gonadal dysgenesis (MGD)MosaicismRing Y chromosome