Table 1 Characteristics of participants, complex structural variants, and individual rearrangement events
Details of participant | Details of whole cxSV | Details of individual rearrangement events | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Participant | Phenotype | Sex | cxSV type | Nomenclature | Inheritance | Pathogenicity (implicated gene) | GT | Chr | Start | End | SV | Included segmentsb | Size | Confirmation method |
P1 | Coffin-Siris syndrome; Atrial septal defect; Cleft soft palate | F | dupINVinvDEL | 46,XX,der(6)(q25.1,q28)dn seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768570):: q25.2(+)(154778901),q25.2(+)154778992:: q25.2(-)(154774047),q25.2 (-)(154768570):: q25.2(-)(154768570),q25.1(-)(~151443182-151443482))dn | De novo | Pathogenic (ARID1B) | Het | 6 | 151443332a | 154768570 | Dup | B | 3.3 Mb | Microarray |
151443332 | 154778901 | Inv | B-C-E | 3.3 Mb | Sanger | |||||||||
154774047 | 154778992 | Inv | D-E | 4.9 kb | Sanger | |||||||||
154778901 | 171115067 | Del | D-F | 16.3 Mb | Sanger and Microarray | |||||||||
P2 | Tonic-clonic seizures; Intellectual disability; Learning difficulties | M | delINVdup | 46,XX,der(1)(q44,q44). seq[GRCh37/hg19]der(1) (1pter->1q44(+)(244867200):: TCGCC{5}:: q44(-)(246816211),q44(-)(246064238}):: GGG...TAG{48}:: q44(+)(246569871)->1qter)dn | De novo | Pathogenic (HNRNPU) | Het | 1 | 244867200 | 246064238 | Del | B | 1.2 Mb | Sanger and Microarray |
246064238 | 246816211 | Inv | C-D | 505 kb | Sanger | |||||||||
246569871 | 246816211 | Dup | D | 246 kb | Sanger and Microarray | |||||||||
P3 | Cone-rod dystrophy; Sensorineural hearing loss | M | delINVdel | 46,XX,der(9)(q21.2,q21.2) seq[GRCh37/hg19]der(9) (9pter->9q21.2(+)(80843698):: q21.2(-)(80849760}),q21.2(-)(80849462}):: q21.2(+)(80859678}->9qter) | Not available | Pathogenic (CEP78) | Hom | 9 | 80843698 | 80849462 | Del | B | 5.7 kb | Sanger and Microarray |
80849462 | 80849760 | Inv | C | 298 bp | Sanger | |||||||||
80849760 | 80859678 | Del | D | 9.9 kb | Sanger and Microarray | |||||||||
P4 | HIE Grade 2, birth asphyxia; Fetal distress; Intrauterine hypoxia | F | dupINVdup | 46,XX,der(X)(p22.13,p22.13)dn seq[GRCh37/hg19]der(X) (Xpter->Xp22.13(+)(18074005):: GCA…CAC{100}:: p22.13(-)(18532312),p22.13(-)(17793009):: p22.13(+)(18248955)->Xqter)dn | De novo | VUS (CDKL5) | Het | X | 17793009 | 18074005 | Dup | B | 280 kb | Sanger and Microarray |
17793009 | 18532312 | Inv | B-C-D | 458 kb | Sanger and ONT | |||||||||
18248955 | 18532312 | Dup | D | 283 kb | Microarray | |||||||||