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Updated descriptors authored by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
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</tr> </tr>
<tr> <tr>
<td>Klinefelter Syndrome (47,XXY)</td> <td>Klinefelter Syndrome (47,XXY)</td>
<td>GRCh38 (chrX:add)</td> <td>
<span dir="">GRCh38 (chrX)add</span>
</td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -25,7 +28,10 @@ ...@@ -25,7 +28,10 @@
[Turner Syndrome](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome) [Turner Syndrome](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome)
</td> </td>
<td>GRCh38 (chrX:del)</td> <td>
<span dir="">GRCh38 (chrX)del</span>
</td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -36,7 +42,7 @@ ...@@ -36,7 +42,7 @@
</tr> </tr>
<tr> <tr>
<td>47,XYY Syndrome</td> <td>47,XYY Syndrome</td>
<td>GRCh38 (chrY:add)</td> <td>GRCh38 (chrY)add</td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -50,7 +56,7 @@ ...@@ -50,7 +56,7 @@
[Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18) [Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18)
</td> </td>
<td>GRCh38 (chr18:add)</td> <td>GRCh38 (chr18)add</td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -64,7 +70,7 @@ ...@@ -64,7 +70,7 @@
[Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21) [Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21)
</td> </td>
<td>GRCh38 (chr21:add)</td> <td>GRCh38 (chr21)add</td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -82,7 +88,7 @@ ...@@ -82,7 +88,7 @@
</div></td> </div></td>
<td> <td>
<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 (chr21:q10)::(chr14:q10) - \[Down syndrome, unbalanced thus partial trisomy 21\] GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del - \[Variant for balanced carrier\]</span>
</td> </td>
<td> <td>
...@@ -112,12 +118,10 @@ ...@@ -112,12 +118,10 @@
</div></td> </div></td>
<td> <td>
<span dir="">GRCh38 (chrXq10::chrXq10),(chrXp:del) - \[form of Turner syndrome, p-arm loss of chrX\]</span> <span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del </span>
</td> </td>
<td>Other - Isochromosome</td> <td>Other - Isochromosome</td>
<td> <td>- \[form of Turner syndrome, p-arm loss of chrX\]</td>
</td>
</tr> </tr>
<tr> <tr>
<td> <td>
...@@ -128,16 +132,17 @@ ...@@ -128,16 +132,17 @@
</div></td> </div></td>
<td> <td>
<span dir="">GRCh38 (chr14p::chr14q) - \[associated with epilepsy and mental retardation\]</span> <span dir="">GRCh38 (chr14:p)::(chr14:q) </span>
</td> </td>
<td>Other - Ring chromosome</td> <td>Other - Ring chromosome</td>
<td> <td>\[associated with epilepsy and mental retardation\]</td>
</td>
</tr> </tr>
<tr> <tr>
<td>Velocardiofacial syndrome</td> <td>Velocardiofacial syndrome</td>
<td>GRCh37 22q11.2(chr22:18912231-21465672del),(chr22:20731986-21465672del)</td> <td>
<span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span>
</td>
<td>Structural Variant</td> <td>Structural Variant</td>
<td> <td>
......