Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Tschernigg, M; Petek, E; Leonhardtsberger, A; Wagner, K; Kroisel, PM.
Terminal tandem duplication of 16p: a case with pure partial trisomy (16)(pter-->p13).
Genet Couns. 2002; 13(3):303-307
(- Case Report)
Web of Science
PubMed
- Führende Autor*innen der Med Uni Graz
- Tschernigg Michaela
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Wagner Klaus
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- Abstract:
- A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Chromosome Aberrations - genetics
- Chromosomes, Human, Pair 16 - ultrastructure
- Cleft Lip - genetics
- Cleft Palate - genetics
- Foot Deformities, Congenital - genetics
- Hand Deformities, Congenital - genetics
- Humans - genetics
- Infant, Newborn - genetics
- Karyotyping - genetics
- Male - genetics
- Tandem Repeat Sequences - genetics
- Trisomy - genetics
- Find related publications in this database (Keywords)
- chromosome 16p
- de novo
- partial trisomy 16p