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Some questions concerning the discription of karyotypes


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#1 Ranuncula

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Posted 04 May 2012 - 02:15 AM

Hi,

I 've got some questions concerning the description of karyotypes in literature. Posted Image

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.Posted Image

#2 hobglobin

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Posted 04 May 2012 - 08:07 AM

here's a list:

add - Addition material of unknown origin
del - Deletion
de novo - A chromosome abnormality which has not been inherited
der - Derivative Chromosome
dic - Dicentric
dup - Duplication
fra - Fragile Site
idic - Isodicentric chromosome
ins - Insertion
inv - Inversion
i or iso - Isochromosome
mar - Marker chromosome
mat - Maternal origin
Minus sign (-) - Loss
mos - Mosaic
p - Short arm of chromosome
pat - Paternal origin
Plus sign (+) - Gain
q - Long arm of chromosome
r - Ring chromosome
rcp - Reciprocal
rea - Rearrangement
rec - Recombinant chromosome
rob - Robertsonian translocation
t - translocation
tel - Telomere (end of chromosome arm)
ter - Terminal end of chromosome
upd - Uniparental disomy
? - Uncertain
One must presume that long and short arguments contribute to the same end. - Epicurus
...except casandra's that belong to the funniest, most interesting and imaginative (or over-imaginative?) ones, I suppose.




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