Case Report
Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2—pter with the Deletion of the Terminal Portion of the Chromosome 6
Table 1
Results of the affymetrix cytogenetics whole-genome 2.7 M array.
| Cytoband start | p11.2 | q24.1 | q22.1 | p13.3 | p13.2 | Cytoband end | p11.2 | q24.1 | q22.1 | p13.3 | p13.2 | CN state | 0 | 1 | 1 | 3 | 3 | Type | Loss | Loss | Loss | Gain | Gain | Chromosome | Y | 2 | 6 | 17 | 17 | Min | 9235741 | 156914391 | 116263486 | 2653130 | 6117392 | Max | 9972947 | 157022143 | 116369551 | 2792389 | 6227251 | Size (kbp) | 737 | 107 | 106 | 139 | 109 | Mean marker distance | 6641 | 1584 | 1309 | 3978 | 1007 | Marker count | 112 | 69 | 82 | 36 | 110 | Confidence % | 87.8 | 85.6 | 85.3 | 92.1 | 87.2 | FISH Clones | | RP11-605B16 | RP1-188H10, RP11-721G11 | CTB-11O23 | | Genes | TSPY3, TSPY1, CYorf16, TSPY3, CYorf16, CYorf16, CYorf16, CYorf16 | GPD2, GPD2 | FRK | GARNL4, GARNL4 | |
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