Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Fauth, C; Bartels, I; Haaf, T; Speicher, MR.
Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin.
Am J Med Genet. 2001; 103(2):160-162
Doi: 10.1002/ajmg.1520
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Speicher Michael
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- Abstract:
- Paracentric inversions in chromosome 19 have rarely been described. Here we present an inv(19)(p11p13.1) with a breakpoint in the pericentromeric heterochromatin which leads to an additional dark G-band in the p-arm of chromosome 19. The rearranged chromosome segregated in two generations of a family without any phenotypic effects. A detailed characterization of the inv(19) by molecular cytogenetic techniques is presented.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Amniocentesis -
- Centromere - genetics
- Chromosome Banding - genetics
- Chromosome Breakage - genetics
- Chromosomes, Human, Pair 19 - genetics
- Female - genetics
- Heterochromatin - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Inversion, Chromosome - genetics
- Pregnancy - genetics
- Find related publications in this database (Keywords)
- paracentric inversion
- prenatal diagnosis
- fluorescence in situ hybridization