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  • Chromosomal Abnormalities

Chromosomal Abnormalities · Changes

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Update Chromosomal Abnormalities authored Aug 30, 2024 by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
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...@@ -16,6 +16,7 @@ ...@@ -16,6 +16,7 @@
<span dir="">GRCh38 (chrX)add</span> <span dir="">GRCh38 (chrX)add</span>
</td> </td>
<td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -32,7 +33,7 @@ ...@@ -32,7 +33,7 @@
<td> <td>
<span dir="">GRCh38 (chrX)del</span> <span dir="">GRCh38 (chrX)del</span>
<td</td> <td></td>
</td> </td>
<td> <td>
...@@ -45,7 +46,7 @@ ...@@ -45,7 +46,7 @@
<tr> <tr>
<td>47,XYY Syndrome</td> <td>47,XYY Syndrome</td>
<td>GRCh38 (chrY)add</td> <td>GRCh38 (chrY)add</td>
<td</td> <td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -60,7 +61,7 @@ ...@@ -60,7 +61,7 @@
[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> <td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -75,7 +76,7 @@ ...@@ -75,7 +76,7 @@
[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> <td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -96,7 +97,7 @@ ...@@ -96,7 +97,7 @@
* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span> * <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span>
* <span dir="">GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del </span> * <span dir="">GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del </span>
</td> </td>
<td</td> <td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -110,7 +111,7 @@ ...@@ -110,7 +111,7 @@
* <span dir="">GRCh38 (chrX:147912050-147912052)x201 </span> * <span dir="">GRCh38 (chrX:147912050-147912052)x201 </span>
* <span dir="">GRCh38 (chrX:147912050-147912052)x201,500 </span> * <span dir="">GRCh38 (chrX:147912050-147912052)x201,500 </span>
</td> </td>
<td</td> <td></td>
<td>Poly Nucleotide Repeat</td> <td>Poly Nucleotide Repeat</td>
<td> <td>
...@@ -127,7 +128,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -127,7 +128,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<td> <td>
<span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del</span> <span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del</span>
</td> </td>
<td</td> <td></td>
<td>Other - Isochromosome</td> <td>Other - Isochromosome</td>
<td>- \[form of Turner syndrome, p-arm loss of chrX\]</td> <td>- \[form of Turner syndrome, p-arm loss of chrX\]</td>
</tr> </tr>
......
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