Table I.
Studies on copy number variations and constitutional chromothripsis.
| Author, year | Phenotype | Copy number variationsa | Chromothripsis | (Refs.) |
|---|---|---|---|---|
| Bertelsen et al, 2016 | Normal | hg19xg.[chr3:[pter_135827611::137890282_138510036 inv::138510037_142218722::135827614_137735948]::chr5: 118834146_qter]; g.[chr5:pter_118834138::chr3: [137845987_137890201inv::142218723_qter]] An ~109-kb deletion on 3q22.3 was detected. | Chromothripsis transmitted through three generations in 11 healthy carriers | (45) |
| Pettersson et al, 2018 | Normal | 5p13.2(31820212-32131586)x1 5p13.2(36418846-36521666)x1 5p13.2(37072236-37092106)x1 5p13.2(37577701-37742275)x1 5q13.2(70150001-70220000)x1 | Chromothriptic rearrangement | (48) |
| Pettersson et al, 2018 | Developmental delay | 5p13.2(31820212-32131586)x1 5p13.2(36521666-37072247)x3 5p13.2(37092106-37577669)x3 | Complex rearrangement that evolved from a chromothriptic rearrangement in the mother | (48) |
| Slamova et al, 2018 | Developmental and growth delay | Two de novo deletions of 0.7 and 2.5 Mb at two of the breakpoints in 1q24.3 and 6q24.1-q24.2, respectively | Chromothriptic rearrangement | (49) |
| Nazaryan-Petersen et al, 2018 | Liver malformation | arr[GRCh37] 5p15.1(16715952_16736553x1, 16758650_16771432x1) NC_000005.9:g.[16715952_16736553del;16736554_16758649inv;16758650_16771432del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Speech delay, autism | arr[GRCh37] 7q11.22q11.23(70610154_72399292x 1,74050199_74834365x1) dn NC_000007.14:g.[70609300_72422999del;72423000_74047984inv;74047986_74049000del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Developmental delay, speech delay, visual abnormality, craniosynostosis | arr[GRCh37] 11q14.3 (89843044_91294308)x1 mat NC_000011.9:g.[89543002_89640782del;89640783_89766001inv;89766002_91339106del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Speech delay, ADHD, autism | arr[GRCh37] 17p13.3(2173896_2414920)x1 pat NC_000017.10:g.[2220422_2484969del;2484970_2617882inv;2617882_2649613del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Developmental delay, speech delay | arr[GRCh37] 21q22.3(43427355_44858483x1,45803409_48095807x1) dn NC_000021.8:g.[43414907_44797114del; 44797115_44797221inv; 44797222_45781000del; 45781001_45781001inv;45781002_ 48101999del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Developmental delay, speech delay, growth retardation | arr[GRCh37] 4q31.3q34.1(155165258_158705411x1, 161300937_166372343x1,171349346_174403566x1) dn NC_000004.11:g.[154997276_155050346del;155164913_158707725del;158707726_171342995 inv;161297891_166374443del;171342996_174401004del] | Chromothripsis | (47) |
| Nazaryan-Petersen et al, 2018 | Infantile spasms, hypotonia | arr[GRCh37] 7q11.23q21.11(75063222_77310662x1, 77629679_77770664x1,78236090_79911425x1, 82687283_82746799x1)dn NC_000007.14:g.[74942506_77216338delins[77754229_77756619inv;77770732_78236952inv;78265840_82690202inv];77226982_77226980del;77226981_77626463 inv;77626464_77626462del;77626463_78265840inv; 78265841_82754313del] | Chromothripsis | (47) |
| Hattori et al, 2019 | Transient neonatal diabetes mellitus and multiple congenital malformations | 46,XY,der (6) add (6)(q23.3),der (13) add (13)(q12.1),der (14) add (14)(q31),der (21) del(q11.2) add(q11.2) Two tandem inversions with a deletion on 2q Catastrophic rearrangements on 21q | Chromothripsis or chromoanasynthesis. Chromothripsis was particularly likely. | (18) |
aCopy number variations. ADHD, attention deficit hyperactivity disorder.