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Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency
dc.creator | Milenkovic, T. | |
dc.creator | Guć-Šćekić, Marija | |
dc.creator | Zdravkovic, D. | |
dc.creator | Topic, V | |
dc.creator | Liehr, T. | |
dc.creator | Joksić, Gordana | |
dc.creator | Radivojevic, D. | |
dc.creator | Lakic, N. | |
dc.date.accessioned | 2018-03-01T22:16:27Z | |
dc.date.available | 2018-03-01T22:16:27Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 1311-0160 | |
dc.identifier.uri | https://vinar.vin.bg.ac.rs/handle/123456789/4691 | |
dc.description.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. | en |
dc.rights | openAccess | en |
dc.source | Balkan Journal of Medical Genetics | en |
dc.subject | Growth hormone (GH) deficiency | en |
dc.subject | Mixed gonadal dysgenesis (MGD) | en |
dc.subject | Mosaicism | en |
dc.subject | Ring Y chromosome. | en |
dc.title | Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency | en |
dc.type | article | en |
dcterms.abstract | Здравковиц, Д.; Радивојевиц, Д.; Гуц-Сцекиц, М.; Миленковиц, Т.; Лакиц, Н.; Јоксић Гордана; Топиц, В; Лиехр, Т.; | |
dc.citation.volume | 14 | |
dc.citation.issue | 2 | |
dc.citation.spage | 71 | |
dc.citation.epage | 76 | |
dc.identifier.wos | 000300226300009 | |
dc.identifier.doi | 10.2478/v10034-011-0049-5 | |
dc.citation.rank | M23 | |
dc.identifier.pmid | 24052714 | |
dc.identifier.scopus | 2-s2.0-83655190738 | |
dc.identifier.fulltext | https://vinar.vin.bg.ac.rs//bitstream/id/12963/4687.pdf |