... | ... | @@ -88,25 +88,26 @@ |
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</div></td>
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<td>
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<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>
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* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span>
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* <span dir="">GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del </span>
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</td>
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<td>
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<span dir="">Aneuploidy</span>
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</td>
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<td>
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</td>
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<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>
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</tr>
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<tr>
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<td>Fragile X syndrome</td>
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<td>
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<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>
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* <span dir="">GRCh38 (chrX:147912050-147912052)x201 </span>
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* <span dir="">GRCh38 (chrX:147912050-147912052)x201,500 </span>
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</td>
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<td>Poly Nucleotide Repeat</td>
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<td>
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GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats variant, likely pathogenic\]<br>GRCh38 (chrX:147912050-147912052)x201,500 - \[generalized CNV for "all" likely pathogenic variants resulting in fragile X\]
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</td>
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</tr>
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<tr>
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... | ... | @@ -118,7 +119,7 @@ |
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</div></td>
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<td>
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<span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del </span>
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<span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del</span>
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</td>
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<td>Other - Isochromosome</td>
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<td>- \[form of Turner syndrome, p-arm loss of chrX\]</td>
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... | ... | @@ -132,7 +133,7 @@ |
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</div></td>
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<td>
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<span dir="">GRCh38 (chr14:p)::(chr14:q) </span>
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<span dir="">GRCh38 (chr14:p)::(chr14:q)</span>
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</td>
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<td>Other - Ring chromosome</td>
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<td>\[associated with epilepsy and mental retardation\]</td>
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... | ... | |