... | @@ -137,9 +137,16 @@ |
... | @@ -137,9 +137,16 @@ |
|
</tr>
|
|
</tr>
|
|
<tr>
|
|
<tr>
|
|
<td>Velocardiofacial syndrome</td>
|
|
<td>Velocardiofacial syndrome</td>
|
|
<td>GRCh38 21q11.2(chr21:150000-160000del)</td>
|
|
<td>GRCh37 22q11.2(chr22:18912231-21465672del),(chr22:20731986-21465672del)</td>
|
|
<td>Structural Variant</td>
|
|
<td>Structural Variant</td>
|
|
<td>The specific microdeletion(s) genomic variants should be provided as SV. Vague "some microdeletions somewhere in a band of the q-arm" not supported. Deletion of whole 22q11.2 cytoband supported via equivalent genomic coordinates; best as a deletion SV than an x0 CNV</td>
|
|
<td>
|
|
|
|
|
|
|
|
The specific microdeletion(s) genomic variants should be provided as SV. Vague "some microdeletions somewhere in a band of the q-arm" not supported. Deletion of whole 22q11.2 cytoband supported via equivalent genomic coordinates; best as a deletion SV than an x0 CNV<br>References:
|
|
|
|
|
|
|
|
* <https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37516>
|
|
|
|
* <https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37446>
|
|
|
|
* <https://www.ncbi.nlm.nih.gov/books/NBK1523/>
|
|
|
|
</td>
|
|
</tr>
|
|
</tr>
|
|
</table>
|
|
</table>
|
|
|
|
|
... | | ... | |