Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E.
Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
GENET COUNSEL. 2007; 18(1): 9-16.
(- Case Report)
Web of Science
PubMed
- Führende Autor*innen der Med Uni Graz
- Petek Erwin
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Wagner Klaus
- Windpassinger Christian
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- Abstract:
- We describe a 4-year-old boy with various facial dysmorphic features such as downslanting palpebral fissures, ptosis, hypertelorism, broad nasal bridge, small and low-set ears, broad philtrum, and micrognathia. In addition, profound mental retardation, myopia, muscular hypotonia as well as genital and cardiovascular abnormalities are also present. Refinement of the breakpoints by cytogenetic techniques, in particular the increase of banding resolution in conventional cytogenetic analysis, has enabled the correct diagnosis, as proven by fluorescence in situ hybridisation (FISH) using whole chromosome painting and single copy probes. We were able to demonstrate an unbalanced translocation that the patient inherited from his father resulting in a submicroscopic monosomy 16p13.3 and a trisomy 2p24.2-pter.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Child, Preschool - genetics
- Chromosome Banding - genetics
- Chromosomes, Human, Pair 16 - genetics
- Chromosomes, Human, Pair 2 - genetics
- Cytogenetic Analysis - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Karyotyping - genetics
- Male - genetics
- Monosomy - genetics
- Phenotype - genetics
- Translocation, Genetic - genetics
- Trisomy - genetics
- Find related publications in this database (Keywords)
- deletion 16p
- partial trisomy 2p
- FISH