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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
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</tr>
<tr>
<td>Velocardiofacial syndrome</td>
<td>GRCh38 (chr21q11.2:150000-160000:del)</td>
<td>GRCh38 21q11.2(chr21:150000-160000del)</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>
</tr>
......
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