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

Abstract

Ring 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.

• Authors: T Milenkovic, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic, N Lakic
• Journal: Balkan journal of medical genetics : BJMG (Balkan J Med Genet) Vol. 14 Issue 2 Pg. 71-6 (Dec 2011) ISSN: 1311-0160 [Print] Poland
• PMID: 24052714 (Publication Type: Journal Article)