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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
View page @ ff699688
...@@ -6,6 +6,7 @@ ...@@ -6,6 +6,7 @@
<tr> <tr>
<th>Condition</th> <th>Condition</th>
<th>Descriptor</th> <th>Descriptor</th>
<th>ClinGen Allele Registry Identifier</th>
<th>Type</th> <th>Type</th>
<th>Comments</th> <th>Comments</th>
</tr> </tr>
...@@ -31,6 +32,7 @@ ...@@ -31,6 +32,7 @@
<td> <td>
<span dir="">GRCh38 (chrX)del</span> <span dir="">GRCh38 (chrX)del</span>
<td</td>
</td> </td>
<td> <td>
...@@ -43,6 +45,7 @@ ...@@ -43,6 +45,7 @@
<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>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -57,6 +60,7 @@ ...@@ -57,6 +60,7 @@
[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>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -71,6 +75,7 @@ ...@@ -71,6 +75,7 @@
[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>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -91,6 +96,7 @@ ...@@ -91,6 +96,7 @@
* <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>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -104,6 +110,7 @@ ...@@ -104,6 +110,7 @@
* <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>Poly Nucleotide Repeat</td> <td>Poly Nucleotide Repeat</td>
<td> <td>
...@@ -118,9 +125,9 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -118,9 +125,9 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<div>Isochromosome (e.g. leading to Turner syndrome)</div> <div>Isochromosome (e.g. leading to Turner syndrome)</div>
</div></td> </div></td>
<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>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>
...@@ -135,6 +142,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -135,6 +142,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<span dir="">GRCh38 (chr14:p)::(chr14:q)</span> <span dir="">GRCh38 (chr14:p)::(chr14:q)</span>
</td> </td>
<td</td>
<td>Other - Ring chromosome</td> <td>Other - Ring chromosome</td>
<td>\[associated with epilepsy and mental retardation\]</td> <td>\[associated with epilepsy and mental retardation\]</td>
</tr> </tr>
...@@ -144,6 +152,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -144,6 +152,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span> <span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span>
</td> </td>
<td</td>
<td>Structural Variant</td> <td>Structural Variant</td>
<td> <td>
......
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