Medizinische Universität Graz - Research portal
Selected Publication:
Plöchl, E; Vlasak, I; Rittinger, O; Bergendi, E; Stopar, M; Kurnik, P; Nachtigall, M; Zierler, H; Rappold, GA; Schiebel, K.
Clinical, cytogenetic and molecular analysis of three 46,XX males.
J PEDIATR ENDOCRINOL METAB. 2000; 12(3): 389-395.
Doi: 10.1515/JPEM.1999.12.3.389
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Co-authors Med Uni Graz
- Zierler Hannelore
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Child -
- Chorionic Gonadotropin - diagnostic use
- Cytogenetics - diagnostic use
- DNA - genetics
- Gonadal Steroid Hormones - blood
- Humans - blood
- In Situ Hybridization, Fluorescence - blood
- Infant - blood
- Karyotyping - blood
- Male - blood
- Reverse Transcriptase Polymerase Chain Reaction - blood
- Turner Syndrome - genetics
- Y Chromosome - genetics