Table 1 Results of FISH on metaphase spreads from the proband
7p breakpoint (α/α’) | ||||
BAC | Start (hg19) | End (hg19) | Cytogenetic band | Localization in Proband |
RP11-61 N24 | 20,748,162 | 20,919,479 | 7p21.1-p15.3 | Derivative 11p |
RP11-799 L23 | 20,810,041 | 21,001,537 | 7p21.1-p15.3 | Split: derivative 7q, derivative 11p |
RP11-97 L4 | 20,954,043 | 21,104,475 | 7p15.3 | Split: derivative 7q, derivative 11p |
7q breakpoint (β/β’) | ||||
BAC | Start (hg19) | End (hg19) | Cytogenetic band | Localization in Proband |
RP11-259A16 | 114,374,055 | 114,528,369 | 7q31.1-31.2 | Derivative 11p |
RP11-1 N24 | 114,451,504 | 114,603,837 | 7q31.1-31.2 | Split: derivative 7q, derivative 11p |
RP11-243D16 | 114,556,605 | 114,733,501 | 7q31.1-31.2 | Derivative 7q |
RP11-259A16 | 114,374,055 | 114,528,369 | 7q31.1-31.2 | Derivative 11p |
7q Breakpoint (γ/γ’) | ||||
BAC | Start (hg19) | End (hg19) | Cytogenetic band | Localization in Proband |
RP11-7B9 | 93,714,463 | 93,884,065 | 7q21.3 | Derivative 7p |
RP11-248I13 | 93,933,453 | 94,094,489 | 7q21.3 | Derivative 11p |
11p breakpoint (δ/δ’) | ||||
BAC | Start (hg19) | End (hg19) | Cytogenetic band | Localization in Proband |
RP11-63D14 | 38,455,222 | 38,604,308 | 11p12 | Derivative 7p |
RP11-81O6 | 38,601,145 | 38,749,858 | 11p12 | Split: derivative 7q, derivative 11p |
RP11-99H2 | 38,621,572 | 38,794,051 | 11p12 | Derivative 11p |