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Chromosomal Abnormalities · Changes

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Update Chromosomal Abnormalities authored Apr 17, 2023 by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
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......@@ -88,25 +88,26 @@
</div></td>
<td>
<span dir="">GRCh38 (chr21:q10)::(chr14:q10) - \[Down syndrome, unbalanced thus partial trisomy 21\] GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del - \[Variant for balanced carrier\]</span>
* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span>
* <span dir="">GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del </span>
</td>
<td>
<span dir="">Aneuploidy</span>
</td>
<td>
</td>
<td>GRCh38 (chr21:q10)::(chr14:q10) - \[Down syndrome, unbalanced thus partial trisomy 21\] GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del - \[Variant for balanced carrier\]</td>
</tr>
<tr>
<td>Fragile X syndrome</td>
<td>
<span dir="">GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats variant, likely pathogenic\]<br>GRCh38 (chrX:147912050-147912052)x201,500 - \[generalized CNV for "all" likely pathogenic variants resulting in fragile X\]</span>
* <span dir="">GRCh38 (chrX:147912050-147912052)x201 </span>
* <span dir="">GRCh38 (chrX:147912050-147912052)x201,500 </span>
</td>
<td>Poly Nucleotide Repeat</td>
<td>
GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats variant, likely pathogenic\]<br>GRCh38 (chrX:147912050-147912052)x201,500 - \[generalized CNV for "all" likely pathogenic variants resulting in fragile X\]
</td>
</tr>
<tr>
......@@ -118,7 +119,7 @@
</div></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>Other - Isochromosome</td>
<td>- \[form of Turner syndrome, p-arm loss of chrX\]</td>
......@@ -132,7 +133,7 @@
</div></td>
<td>
<span dir="">GRCh38 (chr14:p)::(chr14:q) </span>
<span dir="">GRCh38 (chr14:p)::(chr14:q)</span>
</td>
<td>Other - Ring chromosome</td>
<td>\[associated with epilepsy and mental retardation\]</td>
......
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