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...

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Autores principales: Milenkovic, T, Guc-Scekic, M, Zdravkovic, D, Topic, V, Liehr, T, Joksic, G, Radivojevic, D, Lakic, N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776702/
https://www.ncbi.nlm.nih.gov/pubmed/24052714
http://dx.doi.org/10.2478/v10034-011-0049-5
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author Milenkovic, T
Guc-Scekic, M
Zdravkovic, D
Topic, V
Liehr, T
Joksic, G
Radivojevic, D
Lakic, N
author_facet Milenkovic, T
Guc-Scekic, M
Zdravkovic, D
Topic, V
Liehr, T
Joksic, G
Radivojevic, D
Lakic, N
author_sort Milenkovic, T
collection PubMed
description 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.
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spelling pubmed-37767022013-09-19 Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency Milenkovic, T Guc-Scekic, M Zdravkovic, D Topic, V Liehr, T Joksic, G Radivojevic, D Lakic, N Balkan J Med Genet Original Article 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. Macedonian Science of Sciences and Arts 2011-12 2011-12-08 /pmc/articles/PMC3776702/ /pubmed/24052714 http://dx.doi.org/10.2478/v10034-011-0049-5 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Original Article
Milenkovic, T
Guc-Scekic, M
Zdravkovic, D
Topic, V
Liehr, T
Joksic, G
Radivojevic, D
Lakic, N
Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title_full Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title_fullStr Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title_full_unstemmed Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title_short Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
title_sort molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776702/
https://www.ncbi.nlm.nih.gov/pubmed/24052714
http://dx.doi.org/10.2478/v10034-011-0049-5
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