... | @@ -9,7 +9,7 @@ |
... | @@ -9,7 +9,7 @@ |
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<th>Condition</th>
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<th>Condition</th>
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<th>Descriptor</th>
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<th>Descriptor</th>
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<th>Type</th>
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<th>Type</th>
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<th>Comments </th>
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<th>Comments</th>
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</tr>
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</tr>
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<tr>
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<tr>
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<td>Klinefelter Syndrome (47,XXY)</td>
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<td>Klinefelter Syndrome (47,XXY)</td>
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... | @@ -136,11 +136,9 @@ |
... | @@ -136,11 +136,9 @@ |
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</tr>
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</tr>
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<tr>
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<tr>
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<td>Velocardiofacial syndrome</td>
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<td>Velocardiofacial syndrome</td>
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<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>
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<td>chr21q11.2:150000-160000:del</td>
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<td>Structural Variant</td>
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<td>Structural Variant</td>
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<td>
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<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>
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|
|
|
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</td>
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|
|
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</tr>
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</tr>
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</table>
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</table>
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... | | ... | |