Chromosomal-Abnormalities.md

 ## Genome Variation - Chromosomal Aberrations & Others
 
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-
 ### Examples with proposed descriptors
 
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@@ -81,7 +79,7 @@
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-<span dir="">GRCh38 (chr21q10;chr14q10) - \[Down syndrome, unbalanced thus partial trisomy 21\]<br>GRCh38 (chr21q;chr14q10),(chr21:del),(chr14:del) - \[Variant for balanced carrier\]</span>
+<span dir="">GRCh38 (chr21q10::chr14q10) - \[Down syndrome, unbalanced thus partial trisomy 21\]<br>GRCh38 (chr21q::chr14q10),(chr21:del),(chr14:del) - \[Variant for balanced carrier\]</span>
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@@ -111,7 +109,7 @@
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-<span dir="">GRCh38 (chrXq10;chrXq10),(chrXp:del) - \[form of Turner syndrome, p-arm loss of chrX\]</span>
+<span dir="">GRCh38 (chrXq10::chrXq10),(chrXp:del) - \[form of Turner syndrome, p-arm loss of chrX\]</span>
 </td>
 <td>Other - Isochromosome</td>
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@@ -127,7 +125,7 @@
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-<span dir="">GRCh38 (chr14p;chr14q) - \[associated with epilepsy and mental retardation\]</span>
+<span dir="">GRCh38 (chr14p::chr14q) - \[associated with epilepsy and mental retardation\]</span>
 </td>
 <td>Other - Ring chromosome</td>
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@@ -163,7 +161,7 @@
 * Assembly doesn't really matter for these
 * Employ composition
 * Based on genomic variation, not resulting condition name(s)
-* `;` for fusion
+* `::` for fusion
 * Employ composition where the variation requires
 * Coordinates provided as cytobands "necessary" (accepted; possibly preferred) in some cases
   - `q10` is 0-length centromere (this is a genotyping standard) from q side and can be used for arm-fusions
@@ -210,12 +208,12 @@ Easy ​
 
 W.L.O.G. ​ From descriptor of a human genomic variant, must consider the balanced healthy (as far as we know now) carrier from the variation that can lead to another kind of Down Syndrome ​
 
-* `GRCh38 (chr21q;chr14q10),(chr21:del),(chr14:del)` - Look, it's simple: fusion of long arms of 21 and 14 at their centromeres, combined with loss of normal chr21 and normal chr14 in the haploid set to complete the Robertsonian translocation for a _balanced_ carrier.
-* `GRCh38 (chr21q;chr14q10),(chr21p10;chr14p10),(chr21:del),(chr14:del)` - Here the balanced carrier has ALSO retained the fusion fragment of the two p arms \[rare, mainly for illustration here\]
-* `GRCh38 (chr21q10;chr14q10)` - But the `:del` are missing, meaning the haploid set has both chr21 and chr14 as well!
+* `GRCh38 (chr21q::chr14q10),(chr21:del),(chr14:del)` - Look, it's simple: fusion of long arms of 21 and 14 at their centromeres, combined with loss of normal chr21 and normal chr14 in the haploid set to complete the Robertsonian translocation for a _balanced_ carrier.
+* `GRCh38 (chr21q::chr14q10),(chr21p10::chr14p10),(chr21:del),(chr14:del)` - Here the balanced carrier has ALSO retained the fusion fragment of the two p arms \[rare, mainly for illustration here\]
+* `GRCh38 (chr21q10::chr14q10)` - But the `:del` are missing, meaning the haploid set has both chr21 and chr14 as well!
   - UNbalanced case.
   - Down Syndrom due to effective \[partial\] trisomy 21 actually caused by the UNbalanced Robertsonian translocation
-  - Also considered more explicit: `GRCh38 (chr21q10;chr14q10):add` for this additional case
+  - Also considered more explicit: `GRCh38 (chr21q10::chr14q10):add` for this additional case
 * This is a class of arm-fusion that is covered this way. Robertsonian is just one case. ​
 
 ### Others
@@ -226,15 +224,15 @@ W.L.O.G. ​ From descriptor of a human genomic variant, must consider the balan
 
 ​
 
-* `GRCh38 (chrXq10;chrXq10),(chrXp:del)` - This one causes a form of Turner syndrome due to the _partial_ loss of the p-arm of chrX.
-  - The isochromosome `(chrXq10;chrXq10)` is two chrX q arms fused at the centromere. The p arms are lost \[causing a form of Turner\]
-  - A class. This is just an example that is connected to Turner syndrom as well as `GRCh38 (chrX:del)` ​
+* `GRCh38 (chrXq10::chrXq10),(chrXp:del)` - This one causes a form of Turner syndrome due to the _partial_ loss of the p-arm of chrX.
+  - The isochromosome `(chrXq10::chrXq10)` is two chrX q arms fused at the centromere. The p arms are lost \[causing a form of Turner\]
+  - A class. This is just an example that is connected to Turner syndrome as well as `GRCh38 (chrX:del)` ​
 
 #### Ring chromosome
 
 ​
 
-* `GRCh38 (chr14p;chr14q)` - Ring chromosome. The end of chr14 p arm is fused to the end of chr14 q arm.
+* `GRCh38 (chr14p::chr14q)` - Ring chromosome. The end of chr14 p arm is fused to the end of chr14 q arm.
   - We need no further banding information for this since the other end is the p10 / q10 0-length "band" used for centromeric fusions.
   - This ring chr14 is likely pathogenic for Epilepsy and mental retardation. Many ring chr have been encountered, with pathogenicities; although rare. ​