<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>de novo</italic> structural aberration. The father's karyotype was normal.</p></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.

Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

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

Laboratory of Medical Genetics, Institute for Mother and Child Healthcare of Serbia "Dr Vukan Cupic", Belgrade, Serbia

School of Medicine, University of Belgrade, Belgrade, Serbia

Department of Clinical Radiology, Institute for Mother and Child Healthcare of Serbia "Dr Vukan Cupic", Belgrade, Serbia

Institute of Human Genetics, University Clinic Jena, Jena, Germany

Vinca Institute of Nuclear Sciences, Belgrade, Serbia

Balkan Journal of Medical Genetics

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,...

Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

Published Online: Dec 08, 2011

Page range: 71 - 76

DOI: https://doi.org/10.2478/v10034-011-0049-5

Keywords
Growth hormone (GH) deficiency, Mixed gonadal dysgenesis (MGD), Mosaicism, Ring Y chromosome

This content is open access.

Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

Published Online: Dec 08, 2011

Page range: 71 - 76

DOI: https://doi.org/10.2478/v10034-011-0049-5

KeywordsGrowth hormone (GH) deficiency, Mixed gonadal dysgenesis (MGD), Mosaicism, Ring Y chromosome

This content is open access.

Keywords
Growth hormone (GH) deficiency, Mixed gonadal dysgenesis (MGD), Mosaicism, Ring Y chromosome