Table 1 Genomic variants detected in the samples cohort. The table summarizes the nanopore sequencing and the F.I.S.H. results for each patient included in the study. The genomic coordinates of the fusion breakpoint and the genes involved by the alteration are provided for each variant reported. No fusion event was detected (ND, Not Detected) in the patients indicated as normal karyotype (46, XX or XY) by FISH and NS analysis
Sample | F.I.S.H. | NS | ||
|---|---|---|---|---|
karyotype | karyotype | Involved Genes | Fusion Breakpoint | |
#1 | 46, XX,del(4)(q12q12) | 46, XX,del(4)(q12q12) | LNX1, LNX1-AS2, LOC100506444, RPL21P44, CHIC2, GSX2, PDGFRα | Chr4:53,443,951 - Chr4:54,343,951 |
#2 | 46, XY,del(4)(q12q12) | 46, XY,del(4)(q12q12) | LNX1, LNX-AS2, RPL21P44, CHIC2, GSX2 | Chr4:53,543,951 – Chr4:54,343,951 |
#3 | 46, XY,del(4)(q12q12) | 46, XY,del(4)(q12q12) | FIP1L1 (16Kb), LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, RPL21P44, CHIC2, GSX2, PDGFRα, LINC0228 | Chr4:53,443,951 – Chr4:54,143,951 |
#4 | 46, XY,t(5;12)(q32;p13) | 46, XY,t(5;12)(q32;p13) | PDGFRβ-ETV6 | Chr5:150,129,614 – Chr12:11,867,739 |
#5 | 46, XY,t(5;14)(q32q32) | 46, XY,t(5;14)(q32q32) | PDGFRβ-CCDC88C | Chr5:150,129,617 – Chr14:91,290,817 |
#6 | 46, XX,t(8;13)(p11;q12) | 46, XX,t(8;13)(p11;q12) | FGFR1-ZMYM2 | Chr8:38,417,891 – Chr13:20,059,507 |
#7 | 46, XX, t(8;13)(p11;q12) | 46, XX, t(8;13)(p11;q12) | FGFR1-ZMYM2 | Chr8:38,957,173 – Chr13:206,235,585 |
#8 | 46, XX | 46, XX | ND | ND |
#9 | 46, XY | 46, XY | ND | ND |
#10 | 46, XY | 46, XY | ND | ND |
#11 | 46, XY | 46, XY | ND | ND |
#12 | 46, XX | 46, XX | ND | ND |