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  • Chromosomal Abnormalities

Chromosomal Abnormalities · Changes

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Update Chromosomal Abnormalities authored Aug 30, 2024 by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
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...@@ -67,7 +67,7 @@ ...@@ -67,7 +67,7 @@
[Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18) [Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18)
</td> </td>
<td>GRCh38 (chr18)add</td> <td>GRCh38 (chr18)add</td>
<td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -82,7 +82,7 @@ ...@@ -82,7 +82,7 @@
[Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21) [Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21)
</td> </td>
<td>GRCh38 (chr21)add</td> <td>GRCh38 (chr21)add</td>
<td></td>
<td> <td>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -103,7 +103,7 @@ ...@@ -103,7 +103,7 @@
* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span> * <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>
<span dir="">Aneuploidy</span> <span dir="">Aneuploidy</span>
...@@ -117,7 +117,7 @@ ...@@ -117,7 +117,7 @@
* <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>Poly Nucleotide Repeat</td> <td>Poly Nucleotide Repeat</td>
<td> <td>
...@@ -134,7 +134,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -134,7 +134,7 @@ 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>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>
...@@ -149,7 +149,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -149,7 +149,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<span dir="">GRCh38 (chr14:p)::(chr14:q)</span> <span dir="">GRCh38 (chr14:p)::(chr14:q)</span>
</td> </td>
<td</td>
<td>Other - Ring chromosome</td> <td>Other - Ring chromosome</td>
<td>\[associated with epilepsy and mental retardation\]</td> <td>\[associated with epilepsy and mental retardation\]</td>
</tr> </tr>
...@@ -159,7 +159,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va ...@@ -159,7 +159,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va
<span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span> <span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span>
</td> </td>
<td</td>
<td>Structural Variant</td> <td>Structural Variant</td>
<td> <td>
......
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