| Autor: |
Wang, Jiyong, Lichty, Angie, Johnson, Jill, Couick, Chandler, Moore, Mary Alice, Christensen, Beth, Howard, Khirston, Lee, Jennifer A., DuPont, Barbara R., Clarkson, Lola, Hilton, Benjamin A. |
| Zdroj: |
Chromosome Research; Mar2023, Vol. 31 Issue 1, p1-10, 10p |
| Abstrakt: |
Liehr et al. ([16]) reported 46 UPD + sSMC cases, among which, three cases involved maternal UPD14 + sSMC whereas only one case involved paternal UPD14 + sSMC (Liehr et al. [16]). In addition, we observed the presence of an sSMC in each cell examined which is most likely derived from 14q11.2 with complex chromosome rearrangement as indicated by the CMA results, although we cannot rule out the possibility of the presence of genomic material derived from other chromosomes or other regions of chromosome 14 on this marker chromosome. Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome Chromosome and FISH analyses demonstrated that the marker chromosome was bisatellited and composed entirely of heterochromatic material from chromosome 14. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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