Publication: Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
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Röthlisberger, B., Kotzot, D., Brecevic, L., Koehler, M., Balmer, D., Binkert, F., & Schinzel, A. (1999). Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. European Journal of Human Genetics, 7, 873–883. https://doi.org/10.1038/sj.ejhg.5200389
Abstract
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Abstract
We report on a family with a balanced complex chromosomal rearrangement (CCR) involving eight breakpoints between chromosomes 6, 7, 18, and 21 in the father. All three sons inherited one derivative chromosome from the father and in addition each inherited a different recombinant chromosome resulting in a partial trisomy 6q in the first, an apparently balanced karyotype in the second, and a partial trisomy 7q in the third son. Fluorescence in situ hybridisation (FISH) and microsatellite analysis were essential for the identification of
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- Röthlisberger, Benno
- Kotzot, Dieter
- Brecevic, Lukrecija
- Koehler, Michael
- Balmer, Damina
- Binkert, Franz
- Schinzel, Albert
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Röthlisberger, B., Kotzot, D., Brecevic, L., Koehler, M., Balmer, D., Binkert, F., & Schinzel, A. (1999). Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. European Journal of Human Genetics, 7, 873–883. https://doi.org/10.1038/sj.ejhg.5200389
