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dc.creatorMilenkovic, T.
dc.creatorGuc-Scekic, M.
dc.creatorZdravkovic, D.
dc.creatorTopic, V
dc.creatorLiehr, T.
dc.creatorJoksić, Gordana
dc.creatorRadivojevic, D.
dc.creatorLakic, N.
dc.date.accessioned2018-03-01T22:16:27Z
dc.date.available2018-03-01T22:16:27Z
dc.date.issued2011
dc.identifier.issn1311-0160 (print)
dc.identifier.urihttp://vinar.vin.bg.ac.rs/123456789/4691
dc.description.abstractRing 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.rightsopenAccessen
dc.sourceBalkan Journal of Medical Geneticsen
dc.subjectGrowth hormone (GH) deficiencyen
dc.subjectMixed gonadal dysgenesis (MGD)en
dc.subjectMosaicismen
dc.subjectRing Y chromosome.en
dc.titleMolecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiencyen
dc.typearticleen
dcterms.abstractЗдравковиц, Д.; Радивојевиц, Д.; Гуц-Сцекиц, М.; Миленковиц, Т.; Лакиц, Н.; Јоксић Гордана; Топиц, В; Лиехр, Т.;
dc.citation.volume14
dc.citation.issue2
dc.citation.spage71
dc.citation.epage76
dc.identifier.wos000300226300009
dc.identifier.doi10.2478/v10034-011-0049-5
dc.citation.rankM23
dc.identifier.pmid24052714
dc.identifier.scopus2-s2.0-83655190738
dc.identifier.fulltexthttp://vinar.rcub.bg.ac.rs/bitstream/handle/123456789/4691/v10034-011-0049-5.pdf


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