Table 1 Chromosome 17 balanced rearrangements and deletions in patients with campomelic dysplasia (CD), acampomelic campomelic dysplasia (ACD) and Pierre-Robin sequence (PRS)
Rearrangements | Inheritance | Breakpoint distance from SOX9(kb) | Breakpoint cluster | Phenotype | Sex | Survival time | Reference | |
|---|---|---|---|---|---|---|---|---|
5′ | 3′ | |||||||
t(7;17)(q34;q25.1) | Sporadic | 50 | Proximal | CD (Severe campomelia) | F* | >6 years | ||
t(12;17)(q21.32;q24.3-q25.1) | Sporadic | 74–88 | Proximal | ACD | F* | 11 months (diseased) | ||
t(2;17)(q35;q23-q24) | Sporadic | 88 | Proximal | CD (Severe campomelia) | F* | Abortion | ||
t(9;17) | Sporadic | 110–140 | Proximal | CD (Severe campomelia) | M | >3 years | [28] | |
t(13;17)(q22;q25.1) | Sporadic | 134–142 | Proximal | ACD | F* | >30 years | ||
t(1;17)(q42.13;q24.3-q25.1) | Sporadic | 173–179 | Proximal | CD (Severe campomelia) | F | >6 years | ||
t(5;17)(q23.2;q24) | Sporadic | 161 | Proximal | ACD | ? | ? | [30] | |
t(6;17)(q14;q24) | Sporadic | 212–224 | Proximal | CD (Mild campomelia) | F* | >3 years | ||
t(10;17)(q24;q23) | Sporadic | 228–229 | Proximal | CD (Severe campomelia) | (M) | >1 year | [7] | |
t(5;17)(q13.3;q24.2) | Sporadic | 288–319 | Proximal | CD (Severe campomelia) | F | >12 years | [7] | |
inv(17)(q11.2;q24.3-q25.1) | Sporadic | 70–350 | Proximal | CD (Mild campomelia) | F* | >2 years | ||
t(1;17) (q42.1;q24.3) | Sporadic | 375 | Proximal | CD (Mild campomelia) | (M) | >5 years | [9] | |
del(17)(q24.3) | Sporadic | 380-1.869 | ACD | F* | >5 years | [8] | ||
del(17)(q24.3) | Familial | 517-1.477 | ACD | F* | > 3 and 32 years | [11] | ||
t(7;17)(q33;q24)del(17)(q24.2q24.3) | Sporadic | 500-4700 | ACD | F* | ? | [12] | ||
t(17;20)(q24.3;q11.2) | Sporadic | 585-601 | Distal | ACD | M | >3 years | Present study | |
t(12;17)(q14.3;q24.3) | Sporadic | 776-811 | Distal | Mandibular and malar hypoplasia | M* | > Newborn | [17] | |
t(Y;17)(q11.2;q24.3) | Sporadic | 789 | Distal | ACD | F* | >3 years | [9] | |
t(7;17)(p.13;q24) | Sporadic | 855-917 | Distal | ACD | F | >32 years | Present study | |
t(4;17)(q28.3;q24.3) | Familial | 899 | Distal | ACD | F /M | > 6 and 32 years | [20] | |
t(13;17)(q22.1;q22.3) | Familial | 932 | Distal | ACD | F/ M | ? | [31] | |
t(17;22)(q25.1;p11.2) | Sporadic | 900 | Distal | ACD | {M} | 6 years (diseased) | ||
t(5;17)(q15;q24) | Familial | 1030-1100 | PRS | PRS | F/M | ? | [10] | |
t(2;17)(q32;q24) | Familial | 1160-1200 | PRS | PRS | F/M | ? | [10] | |
inv(17)(q21.31q24.3)del(17)(q24.3q23) | Sporadic | 1160-1460 | PRS | M | >1 year | [32] | ||
t(2;17)(q24.1;q24.3) | Familial | 1230 | PRS | PRS | F /M | ? | [10] | |
del(17)(q24.3) | Familial | 1380-1450 | PRS | F /M | ? | [10] | ||
del(17)(q24.3) | Sporadic | 1580-1890 | PRS | ? | ? | [10] | ||
t(4;7;8;17) | Sporadic | 1300 | ACD | F* | 3 weeks (diseased) | [20] | ||
del(17)(q25.1) | Sporadic | 1520-1560 | PRS | ? | ? | [10] | ||