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

T Milenkovic; M Guc-Scekic; D Zdravkovic; V Topic; T Liehr; G Joksic; D Radivojevic; N Lakic

doi:10.2478/v10034-011-0049-5

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

Balkan J Med Genet. 2011 Dec;14(2):71-6. doi: 10.2478/v10034-011-0049-5.

Authors

T Milenkovic¹, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic, N Lakic

Affiliation

¹ Department of Endocrinology, Institute for Mother and Child Healthcare of Serbia "Dr Vukan Cupic", Belgrade, Serbia.

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.

Keywords: Growth hormone (GH) deficiency; Mixed gonadal dysgenesis (MGD); Mosaicism; Ring Y chromosome.