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Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency

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dc.contributor.authorMilenkovic, T. (55889872600)
dc.contributor.authorGuc-Scekic, M. (6602359789)
dc.contributor.authorZdravkovic, D. (7004544358)
dc.contributor.authorTopic, V. (57224327167)
dc.contributor.authorLiehr, T. (56404741200)
dc.contributor.authorJoksic, G. (6603704157)
dc.contributor.authorRadivojevic, D. (12769357500)
dc.contributor.authorLakic, N. (35386377100)
dc.date.accessioned2025-06-12T22:41:19Z
dc.date.available2025-06-12T22:41:19Z
dc.date.issued2011
dc.description.abstractRing 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.
dc.identifier.urihttps://doi.org/10.2478/v10034-011-0049-5
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-83655190738&doi=10.2478%2fv10034-011-0049-5&partnerID=40&md5=35e447a38ae40f662601d4ffc65fdce2
dc.identifier.urihttps://remedy.med.bg.ac.rs/handle/123456789/10056
dc.subjectGrowth hormone (GH) deficiency
dc.subjectMixed gonadal dysgenesis (MGD)
dc.subjectMosaicism
dc.subjectRing Y chromosome
dc.titleMolecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency
dspace.entity.typePublication

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