Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
2011
Authors
Milenkovic, T.Guć-Šćekić, Marija
Zdravkovic, D.
Topic, V
Liehr, T.
Joksić, Gordana
Radivojevic, D.
Lakic, N.
Article
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Show full item recordAbstract
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 fathers karyotype was normal.
Keywords:
Growth hormone (GH) deficiency / Mixed gonadal dysgenesis (MGD) / Mosaicism / Ring Y chromosome.Source:
Balkan Journal of Medical Genetics, 2011, 14, 2, 71-76
DOI: 10.2478/v10034-011-0049-5
ISSN: 1311-0160
PubMed: 24052714
WoS: 000300226300009
Scopus: 2-s2.0-83655190738
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VinčaTY - JOUR AU - Milenkovic, T. AU - Guć-Šćekić, Marija AU - Zdravkovic, D. AU - Topic, V AU - Liehr, T. AU - Joksić, Gordana AU - Radivojevic, D. AU - Lakic, N. PY - 2011 UR - https://vinar.vin.bg.ac.rs/handle/123456789/4691 AB - 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 fathers karyotype was normal. T2 - Balkan Journal of Medical Genetics T1 - Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency VL - 14 IS - 2 SP - 71 EP - 76 DO - 10.2478/v10034-011-0049-5 ER -
@article{ author = "Milenkovic, T. and Guć-Šćekić, Marija and Zdravkovic, D. and Topic, V and Liehr, T. and Joksić, Gordana and Radivojevic, D. and Lakic, N.", year = "2011", 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 fathers karyotype was normal.", journal = "Balkan Journal of Medical Genetics", title = "Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency", volume = "14", number = "2", pages = "71-76", doi = "10.2478/v10034-011-0049-5" }
Milenkovic, T., Guć-Šćekić, M., Zdravkovic, D., Topic, V., Liehr, T., Joksić, G., Radivojevic, D.,& Lakic, N.. (2011). Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency. in Balkan Journal of Medical Genetics, 14(2), 71-76. https://doi.org/10.2478/v10034-011-0049-5
Milenkovic T, Guć-Šćekić M, Zdravkovic D, Topic V, Liehr T, Joksić 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. in Balkan Journal of Medical Genetics. 2011;14(2):71-76. doi:10.2478/v10034-011-0049-5 .
Milenkovic, T., Guć-Šćekić, Marija, Zdravkovic, D., Topic, V, Liehr, T., Joksić, Gordana, Radivojevic, D., Lakic, N., "Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency" in Balkan Journal of Medical Genetics, 14, no. 2 (2011):71-76, https://doi.org/10.2478/v10034-011-0049-5 . .