Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Petek, E; Köstl, G; Rauter, L; Mutz, I; Wagner, K; Kroisel, PM.
Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).
Clin Dysmorphol. 2001; 10(2):151-153
Doi: 10.1097/00019605-200104000-00015
(- Case Report)
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Co-Autor*innen der Med Uni Graz
- Wagner Klaus
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- Abstract:
- The molecular-cytogenetic characterization of a de novo pure partial trisomy 10(q24.33-qter) is described. This report provides information about the postnatal phenotype. The clinical findings observed in this case support the conclusion that the more severe disease related genes are located between 10q24.1 and q24.33.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Chromosomes, Human, Pair 10 - genetics
- Cytogenetics - genetics
- Female - genetics
- Humans - genetics
- Infant - genetics
- Phenotype - genetics
- Trisomy - genetics
- Find related publications in this database (Keywords)
- 10q24.33
- dysmorphic features
- fluorescence in situ hybridization (FISH)
- partial trisomy