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 startp11.2q24.1q22.1p13.3p13.2
Cytoband endp11.2q24.1q22.1p13.3p13.2
CN state01133
TypeLossLossLossGainGain
ChromosomeY261717
Min923574115691439111626348626531306117392
Max997294715702214311636955127923896227251
Size (kbp)737107106139109
Mean marker distance66411584130939781007
Marker count112698236110
Confidence %87.885.685.392.187.2
FISH ClonesRP11-605B16RP1-188H10,
RP11-721G11
CTB-11O23
GenesTSPY3, TSPY1, CYorf16,
TSPY3, CYorf16, CYorf16,
CYorf16, CYorf16
GPD2, GPD2FRKGARNL4, GARNL4