Table 2.
Chromosome abnormality in CCA patients.
| Chromosome | Case | HDRA (GEM) | Nomenclature | Type | Cytoband start | Cytoband end | Size (kbp) |
|---|---|---|---|---|---|---|---|
| 1 | 1 | Non-response |
arr[GRCh37]1p36.33p34.3 (849467_38823553)x1-2 |
LossMosaic | p36.33 | p34.3 | 37,974 |
|
arr[GRCh37]1p35.3 (28041506_29192386)x1 |
Loss | p35.3 | p35.3 | 1,151 | |||
|
arr[GRCh37]1p36.12p36.11 (23506625_24608358)x1 |
Loss | p36.12 | p36.11 | 1,102 | |||
|
arr[GRCh37]1p36.12 (21020405_21568796)x1 |
Loss | p36.12 | p36.12 | 548 | |||
|
arr[GRCh37]1p36.22p36.21 (12554938_13891608)x1 |
Loss | p36.22 | p36.21 | 1,337 | |||
|
arr[GRCh37]1p36.22 (9556061_10544861)x1 |
Loss | p36.22 | p36.22 | 989 | |||
|
arr[GRCh37]1p36.22 (10906482_11544216)x1 |
Loss | p36.22 | p36.22 | 638 | |||
| 10 | Non-response |
arr[GRCh37]1p36.31p35.1 (6821590_34151229)x1-2 |
LossMosaic | p36.31 | p35.1 | 27,330 | |
|
arr[GRCh37]1p35.3 (28661956_29172593)x1 |
Loss | p35.3 | p35.3 | 511 | |||
| 2 | 1 | Non-response |
arr[GRCh37]2p25.1p21 (9098653_44507134)x1-2 |
LossMosaic | p25.1 | p21 | 35,408 |
|
arr[GRCh37]2p23.1p22.3 (31799581_33284979)x1 |
Loss | p23.1 | p22.3 | 1,485 | |||
|
arr[GRCh37]2p22.3 (35234572_35641709)x1 |
Loss | p22.3 | p22.3 | 407 | |||
|
arr[GRCh37]2p23.3 (24095149_24677294)x1 |
Loss | p23.3 | p23.3 | 582 | |||
|
arr[GRCh37]2q21.3 (135730199_136284764)x1 |
Loss | q21.3 | q21.3 | 555 | |||
|
arr[GRCh37]2q14.3q24.2 (127059923_163212209)x1-2 |
LossMosaic | q14.3 | q24.2 | 36,152 | |||
| 3 | 4 | Response |
arr[GRCh37]3p12.3 (75230302_76084525)x3 |
Gain | p12.3 | p12.3 | 854 |
| 7 | Response |
arr[GRCh37]3q12.3q24 (101400167_148245122)x2-3 |
GainMosaic | q12.3 | q24 | 46,845 | |
|
arr[GRCh37]3q25.33q28 (159083743_189532941)x2-3 |
GainMosaic | q25.33 | q28 | 30,449 | |||
| 5 | 7 | Response |
arr[GRCh37]5p15.33p12 (113577_43011768)x2-3 |
GainMosaic | p15.33 | p12 | 42,898 |
|
arr[GRCh37]5p13.2p12 (37472715_45879814)x3 |
Gain | p13.2 | p12 | 8,407 | |||
|
arr[GRCh37]5p15.33p13.2 (113577_37169489)x3 |
Gain | p15.33 | p13.2 | 37,056 | |||
| 9 | Response |
arr[GRCh37]5p15.33p15.2 (113577_13832967)x2-3 |
GainMosaic | p15.33 | p15.2 | 13,719 | |
| 6 | 1 | Non-response |
arr[GRCh37]6p21.1 (42417606_42977335)x1 |
Loss | p21.1 | p21.1 | 560 |
|
arr[GRCh37]6p22.3 (17011330_18133449)x1 |
Loss | p22.3 | p22.3 | 1,122 | |||
|
arr[GRCh37]6p24.3p24.2 (10448564_10980754)x1 |
Loss | p24.3 | p24.2 | 532 | |||
|
arr[GRCh37]6q11.1 (61886427_62313137)x1 |
Loss | q11.1 | q11.1 | 427 | |||
|
arr[GRCh37]6q13 (73895541_74429261)x1 |
Loss | q13 | q13 | 534 | |||
|
arr[GRCh37]6q14.3 (86394253_86983438)x1 |
Loss | q14.3 | q14.3 | 589 | |||
|
arr[GRCh37]6q15 (88004224_88573013)x1 |
Loss | q15 | q15 | 569 | |||
|
arr[GRCh37]6q21 (111067330_111661763)x1 |
Loss | q21 | q21 | 594 | |||
|
arr[GRCh37]6q23.3 (136093851_136567229)x1 |
Loss | q23.3 | q23.3 | 473 | |||
|
arr[GRCh37]6p25.3q27 (156975_170914297)x1-2 |
LossMosaic | p25.3 | q27 | 170,757 | |||
| 10 | Non-response |
arr[GRCh37]6p25.1p21.2 (5954961_40416443)x1-2 |
LossMosaic | p25.1 | p21.2 | 34,461 | |
|
arr[GRCh37]6q14.1q22.1 (82344878_117185101)x1-2 |
LossMosaic | q14.1 | q22.1 | 34,840 | |||
| 7 | 3 | Non-response |
arr[GRCh37]7p21.3p11.2 (11091690_57426869)x2-3 |
GainMosaic | p21.3 | p11.2 | 46,335 |
|
arr[GRCh37]7p12.2p12.1 (50292130_50762052)x3 |
Gain | p12.2 | p12.1 | 470 | |||
| 8 | 1 | Non-response |
arr[GRCh37]8p11.21 (42429134_42881241)x1 |
Loss | p11.21 | p11.21 | 452 |
|
arr[GRCh37]8p23.1q12.1 (8500091_56946642)x1-2 |
LossMosaic | p23.1 | q12.1 | 48,447 | |||
| 2 | Non-response |
arr[GRCh37]8q24.13q24.3 (126266588_146295771)x2-3 |
GainMosaic | q24.13 | q24.3 | 20,029 | |
|
arr[GRCh37]8q24.3 (142200731_143827846)x3 |
Gain | q24.3 | q24.3 | 1,627 | |||
| 3 | Non-response |
arr[GRCh37]8p21.3 (20489840_20970119)x3 |
Gain | p21.3 | p21.3 | 480 | |
|
arr[GRCh37]8p22 (12934955_14836619)x3 |
Gain | p22 | p22 | 1,902 | |||
|
arr[GRCh37]8p22 (15951562_16489000)x3 |
Gain | p22 | p22 | 537 | |||
|
arr[GRCh37]8p22 (17067454_17475999)x3 |
Gain | p22 | p22 | 409 | |||
|
arr[GRCh37]8q12.1 (57099358_61256815)x3 |
Gain | q12.1 | q12.1 | 4,157 | |||
|
arr[GRCh37]8q12.1q12.3 (61548810_62579880)x3 |
Gain | q12.1 | q12.3 | 1,031 | |||
|
arr[GRCh37]8q13.1q13.3 (66966609_70709109)x3 |
Gain | q13.1 | q13.3 | 3,743 | |||
|
arr[GRCh37]8q11.23q21.13 (54214435_84595596)x2-3 |
GainMosaic | q11.23 | q21.13 | 30,381 | |||
|
arr[GRCh37]8q13.3q21.13 (70978195_81790275)x3 |
Gain | q13.3 | q21.13 | 10,812 | |||
|
arr[GRCh37]8q22.2q22.3 (101207787_103656906)x3 |
Gain | q22.2 | q22.3 | 2,449 | |||
|
arr[GRCh37]8q22.3q23.3 (105846813_113339872)x3 |
Gain | q22.3 | q23.3 | 7,493 | |||
|
arr[GRCh37]8q24.11q24.12 (119073546_120380601)x3 |
Gain | q24.11 | q24.12 | 1,307 | |||
|
arr[GRCh37]8q22.1q24.13 (98242619_126603194)x2-3 |
GainMosaic | q22.1 | q24.13 | 28,361 | |||
|
arr[GRCh37]8q24.21 (129103558_129556774)x3 |
Gain | q24.21 | q24.21 | 453 | |||
|
arr[GRCh37]8q24.13q24.22 (126604189_136345966)x2-3 |
GainMosaic | q24.13 | q24.22 | 9,742 | |||
|
arr[GRCh37]8q24.22 (134056913_134471062)x3 |
Gain | q24.22 | q24.22 | 414 | |||
|
arr[GRCh37]8q24.22q24.23 (135139948_137157976)x3 |
Gain | q24.22 | q24.23 | 2,018 | |||
| 9 | 1 | Non-response |
arr[GRCh37]9p13.3 (33820013_34301245)x1 |
Loss | p13.3 | p13.3 | 481 |
|
arr[GRCh37]9p22.1 (18981828_19485730)x1 |
Loss | p22.1 | p22.1 | 504 | |||
|
arr[GRCh37]9p22.2 (16897314_17340895)x1 |
Loss | p22.2 | p22.2 | 444 | |||
|
arr[GRCh37]9p24.1 (5650444_6808732)x1 |
Loss | p24.1 | p24.1 | 1,158 | |||
|
arr[GRCh37]9p24.3 (246691_919906)x1 |
Loss | p24.3 | p24.3 | 673 | |||
|
arr[GRCh37]9p24.3q21.13 (208455_76429289)x1-2 |
LossMosaic | p24.3 | q21.13 | 76,221 | |||
| 10 | Non-response |
arr[GRCh37]9p21.3 (20960847_21683289)x1 |
Loss | p21.3 | p21.3 | 722 | |
| 10 | 2 | Non-response |
arr[GRCh37]10q26.11q26.3 (120052677_135426386)x2-3 |
GainMosaic | q26.11 | q26.3 | 15,374 |
| 11 | 3 | Non-response |
arr[GRCh37]11p15.5p13 (235801_32018885)x2-3 |
GainMosaic | p15.5 | p13 | 31,783 |
| 7 | Response |
arr[GRCh37]11q13.4q13.5 (74548487_75611434)x3 |
Gain | q13.4 | q13.5 | 1,063 | |
| 13 | 3 | Non-response |
arr[GRCh37]13q11q34 (19438668_115107733)x2-3 |
GainMosaic | q11 | q34 | 95,669 |
|
arr[GRCh37]13q34 (111407541_113514597)x3 |
Gain | q34 | q34 | 2,107 | |||
| 14 | 1 | Non-response |
arr[GRCh37]14q32.33 (106167582_106749766)x3 |
Gain | q32.33 | q32.33 | 582 |
| 3 | Non-response |
arr[GRCh37]14q32.33 (106148216_106746712)x3 |
Gain | q32.33 | q32.33 | 598 | |
| 5 | Non-response |
arr[GRCh37]14q32.33 (106167582_106863507)x3 |
Gain | q32.33 | q32.33 | 696 | |
| 8 | Response |
arr[GRCh37]14q32.33 (106251148_106849677)x3 |
Gain | q32.33 | q32.33 | 599 | |
| 10 | Non-response |
arr[GRCh37]14q12 (31416308_31864392)x1 |
Loss | q12 | q12 | 448 | |
|
arr[GRCh37]14q13.1q13.2 (35270030_35708869)x1 |
Loss | q13.1 | q13.2 | 439 | |||
|
arr[GRCh37]14q11.2q21.1 (20516278_41002584)x1-2 |
LossMosaic | q11.2 | q21.1 | 20,486 | |||
|
arr[GRCh37]14q32.33 (106125345_106530460)x3 |
Gain | q32.33 | q32.33 | 405 | |||
| 15 | 2 | Non-response |
arr[GRCh37]15q13.3 (31999632_32444043)x3 |
Gain | q13.3 | q13.3 | 444 |
| 16 | 7 | Response |
arr[GRCh37]16p13.3p12.3 (6345871_20929728)x2-3 |
GainMosaic | p13.3 | p12.3 | 14,584 |
| 18 | 1 | Non-response |
arr[GRCh37]18q21.2 (50571832_51047443)x1 |
Loss | q21.2 | q21.2 | 476 |
|
arr[GRCh37]18q21.2 (51634009_52378623)x1 |
Loss | q21.2 | q21.2 | 745 | |||
|
arr[GRCh37]18q21.32 (57149877_57595635)x1 |
Loss | q21.32 | q21.32 | 446 | |||
|
arr[GRCh37]18q21.32 (57917772_58486680)x1 |
Loss | q21.32 | q21.32 | 569 | |||
|
arr[GRCh37]18q12.1q23 (29030286_78013728)x1-2 |
LossMosaic | q12.1 | q23 | 48,983 | |||
| 5 | Non-response |
arr[GRCh37]18q11.2 (22268194_23225879)x3 |
Gain | q11.2 | q11.2 | 958 | |
|
arr[GRCh37]18p11.32q12.1 (136228_28787524)x2-3 |
GainMosaic | p11.32 | q12.1 | 28,651 | |||
|
arr[GRCh37]18q11.2q12.1 (23936593_25673875)x3 |
Gain | q11.2 | q12.1 | 1,737 | |||
| 19 | 10 | Non-response |
arr[GRCh37]19p13.3p12 (260985_21333508)x1-2 |
LossMosaic | p13.3 | p12 | 21,073 |
| 20 | 3 | Non-response |
arr[GRCh37]20p11.21 (22370525_23730358)x3 |
Gain | p11.21 | p11.21 | 1,360 |
|
arr[GRCh37]20p11.23 (19122427_19693492)x3 |
Gain | p11.23 | p11.23 | 571 | |||
|
arr[GRCh37]20p12.3p12.1 (6261275_12351713)x3 |
Gain | p12.3 | p12.1 | 6,090 | |||
|
arr[GRCh37]20p13 (966504_2039357)x3 |
Gain | p13 | p13 | 1,073 | |||
|
arr[GRCh37]20p13 (3998726_4910589)x3 |
Gain | p13 | p13 | 912 | |||
|
arr[GRCh37]20q1 (38697975_39501419)x3 |
Gain | q12 | q12 | 803 | |||
|
arr[GRCh37]20q13.12 (43367799_44156381)x3 |
Gain | q13.12 | q13.12 | 789 | |||
|
arr[GRCh37]20q13.12 (44679952_45107140)x3 |
Gain | q13.12 | q13.12 | 427 | |||
|
arr[GRCh37]20q13.12q13.13 (46253065_47464035)x3 |
Gain | q13.12 | q13.13 | 1,211 | |||
|
arr[GRCh37]20q13.13q13.2 (49507675_50087696)x3 |
Gain | q13.13 | q13.2 | 580 | |||
|
arr[GRCh37]20q13.2 (50870937_51981481)x3 |
Gain | q13.2 | q13.2 | 1,111 | |||
|
arr[GRCh37]20q13.31q13.32 (55356596_57355512)x3 |
Gain | q13.31 | q13.32 | 1,999 | |||
|
arr[GRCh37]20p13q13.33 (61662_62913645)x2-3 |
GainMosaic | p13 | q13.33 | 62,852 | |||
|
arr[GRCh37]20q13.32q13.33 (57666181_62316791)x3 |
Gain | q13.32 | q13.33 | 4,651 | |||
| 10 | Non-response |
arr[GRCh37]20q13.31q13.32 (56022881_56740894)x3 |
Gain | q13.31 | q13.32 | 718 | |
|
arr[GRCh37]20q13.2q13.33 (53140643_62913645)x2-3 |
GainMosaic | q13.2 | q13.33 | 9,773 | |||
|
arr[GRCh37]20q13.32q13.33 (57659733_60570428)x3 |
Gain | q13.32 | q13.33 | 2,911 | |||
|
arr[GRCh37]20q13.33 (60772852_62312855)x3 |
Gain | q13.33 | q13.33 | 1,540 |