Balkan Journal of Medical Genetics

MOLECULAR ANALYSIS OF RING Y CHROMOSOME IN A 10-YEAR-OLD BOY WITH MIXED GONADAL DYSGENESIS AND GROWTH HORMONE DEFICIENCY
Milenkovic T1,*, Guc-Scekic M2, Zdravkovic D1,3, Topic V4, Liehr T5, Joksic G6, Radivojevic D2, Lakic N2
*Corresponding Author: Tatjana Milenkovic, Department of Endocrinology, Institute for Mother and Child Healthcare of Serbia “Dr. Vukan Cupic,” Radoja Dakica 6-8, 11 070 Belgrade, Serbia; Tel.: +381-11-3018-109; Fax: +381-11-3108-257; E-mail: tanjamil@eunet.rs
page: 71

INTRODUCTION

The frequency of ring chromosomes in clinically detectable conceptions is 1/25,000 [1]. Several mechanisms have been proposed for the formation of ring chromosomes [2-4]. The most likely mechanism for their formation involves terminal breakage in both chromosome arms and fusion of the remaining ends and loss of deleted distal material. Because of the instability of ring chromosomes during mitosis, a second monosomic cell line is often present in these patients [4]. Most patients present a mosaic 45,X/46,X,r(Y) karyotype, with phenotypes ranging from female individuals with streak gonads to male patients with bilateral dysgenetic testes, mixed gonadal dysgenesis (MGD) or infertility as the only presentation [2,3,5- 13]. Variability of phenotype depends on the percentage of monosomic cells and on the genetic material deleted during the formation of ring Y chromosome. There are few published reports in which ring the Y chromosome is directly associated with a MGD, but only exceptionally has the ring chromosome been analyzed by molecular techniques. These published MGD patients with a ring Y chromosome had short stature, but none of them had growth hormone (GH) deficiency [2,12]. Here, we present the molecular cytogenetic and molecular characterization of a ring Y chromosome mosaicism in a 10-year-old boy with MGD, short stature and GH deficiency.

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