I 've got some questions concerning the description of karyotypes in literature.
Examples are from this source http://content.karge...8_sm_Tables.pdf tab. 2 - GOTO.
Is the following correct?
- dup = duplication of genes
- del = loss of genes
- + / - = gain / loss of a whole chromosome (chr)
- t(7,8) = translocation from genes of chr. 8 to chr. 7 with loss of the genes at chr. 8
- der(1)t(1,2) = translocation from chr. 2 to chr. 1 + no loss of the genes at chr. 2
- However what is the meaning of der(1)t(2,1)? In tab. 2 you find for exampe der(1)t(1,2) and der(14)t(6,14).
- What does the following mean? What is the meaning of the double :, the arrows and the "ter" after q? der(7)(8?->8?::15q?->q11::7p11->7qter)
- What is the meaning of "X?Y" ? Does that mean they could not find a X but guessed that it should be there as the cell line is from a boy. (The GOTO cell line derived indeed from a boy).
Thank you very much for your help.