... | @@ -16,6 +16,7 @@ |
... | @@ -16,6 +16,7 @@ |
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<span dir="">GRCh38 (chrX)add</span>
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<span dir="">GRCh38 (chrX)add</span>
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</td>
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</td>
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<td></td>
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<td>
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<td>
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<span dir="">Aneuploidy</span>
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<span dir="">Aneuploidy</span>
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... | @@ -32,7 +33,7 @@ |
... | @@ -32,7 +33,7 @@ |
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<td>
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<td>
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<span dir="">GRCh38 (chrX)del</span>
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<span dir="">GRCh38 (chrX)del</span>
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<td</td>
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<td></td>
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</td>
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</td>
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<td>
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<td>
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... | @@ -45,7 +46,7 @@ |
... | @@ -45,7 +46,7 @@ |
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<tr>
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<tr>
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<td>47,XYY Syndrome</td>
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<td>47,XYY Syndrome</td>
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<td>GRCh38 (chrY)add</td>
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<td>GRCh38 (chrY)add</td>
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<td</td>
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<td></td>
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<td>
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<td>
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<span dir="">Aneuploidy</span>
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<span dir="">Aneuploidy</span>
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... | @@ -60,7 +61,7 @@ |
... | @@ -60,7 +61,7 @@ |
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[Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18)
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[Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18)
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</td>
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</td>
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<td>GRCh38 (chr18)add</td>
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<td>GRCh38 (chr18)add</td>
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<td</td>
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<td></td>
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<td>
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<td>
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<span dir="">Aneuploidy</span>
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<span dir="">Aneuploidy</span>
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... | @@ -75,7 +76,7 @@ |
... | @@ -75,7 +76,7 @@ |
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[Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21)
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[Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21)
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</td>
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</td>
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<td>GRCh38 (chr21)add</td>
|
|
<td>GRCh38 (chr21)add</td>
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<td</td>
|
|
<td></td>
|
|
<td>
|
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<td>
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<span dir="">Aneuploidy</span>
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|
<span dir="">Aneuploidy</span>
|
... | @@ -96,7 +97,7 @@ |
... | @@ -96,7 +97,7 @@ |
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* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span>
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|
* <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>
|
|
<td>
|
|
<td>
|
|
|
|
|
|
<span dir="">Aneuploidy</span>
|
|
<span dir="">Aneuploidy</span>
|
... | @@ -110,7 +111,7 @@ |
... | @@ -110,7 +111,7 @@ |
|
* <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></td>
|
|
<td>Poly Nucleotide Repeat</td>
|
|
<td>Poly Nucleotide Repeat</td>
|
|
<td>
|
|
<td>
|
|
|
|
|
... | @@ -127,7 +128,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va |
... | @@ -127,7 +128,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va |
|
<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></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>
|
... | | ... | |