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Chromosomal Abnormalities · Changes

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Update Chromosomal Abnormalities authored Mar 13, 2023 by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
View page @ f41e5c36
......@@ -9,7 +9,7 @@
<th>Condition</th>
<th>Descriptor</th>
<th>Type</th>
<th>Comments </th>
<th>Comments</th>
</tr>
<tr>
<td>Klinefelter Syndrome (47,XXY)</td>
......@@ -136,11 +136,9 @@
</tr>
<tr>
<td>Velocardiofacial syndrome</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>chr21q11.2:150000-160000:del</td>
<td>Structural Variant</td>
<td>
</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>
</tr>
</table>
......
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