Table 1.
Summary of the detected rearrangements
| Families | Copy number profile | HGVS | Duplicated genes |
|---|---|---|---|
| 1,2 | DUP-TRIP-DUP | chr4:g.113954280_qterdelins[ chr4:g.113912749_113915113inv; chr4:g.111100841_qter] |
ELOVL6, ENPEP, PITX2, FAM241A, AP1AR, TIFA, ALPK1, NEUROG2, ZGRF1, LARP7, hsa-miR-297, ANK2 |
| 3a | DUP-NML-DUP | chrX:g.29570408_qterdelins[ chrX:g.33038509_33426916inv; chrX:g.29020059_qter] |
IL1RAPL1, DMD |
| 4 | DUP-NML-DUP | chr14:g.21879481_qterdelins[ chr14:g.21501001_21502976; chr14:g.21849620_qter] |
RNASE13, SUPT16H, CHD8 |
| 5 | TRIP-QUINT-TRIP | chr16:g.3899656_qterdelins[ chr16:g.3689781_3762460inv; chr16:g.3688503_3899656; chr16:g.3689781_3762460inv; chr16:g.3688503_qter] |
DNASE1, TRAP1, CREBBP |
Genes associated with autism in bold. (HGVS) Human Genome Variation Society.
aCGR architecture not conclusively resolved.