Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency.
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.
Department of Endocrinology, Institute for Mother and Child Healthcare of Serbia "Dr Vukan Cupic", Belgrade, Serbia.
T
T
Milenkovic
M
M
Guc-Scekic
D
D
Zdravkovic
V
V
Topic
T
T
Liehr
G
G
Joksic
D
D
Radivojevic
N
N
Lakic
Growth hormone (GH) deficiency; Mixed gonadal dysgenesis (MGD); Mosaicism; Ring Y chromosome