Table 1.
ID | Sample Type | sex | Clinical Data | Duplication Boundaries(hg19) | Size, kb | Inherited | Gene | |
---|---|---|---|---|---|---|---|---|
Start | End | |||||||
P1 | pb | female | MR and CP | 32003537 | 32444044 | 441 | p | CHRNA7 |
P1.1a | pb | male | Normal | 32011475 | 32446830 | 435 | _ | CHRNA7 |
P2 | ub | male | Fetal oral clefts | 32011475 | 32444044 | 433 | dn | CHRNA7 |
P3 | ub | male | Fetal oral clefts | 32379160 | 32914240 | 535 | dn | CHRNA7 b |
Abbreviations: pb, peripheral blood; ub, umbilical cord blood; MR, mental retardation; CP, cleft palate; _: data not access.
aP1.1 is the father of P1.
b CHRNA7, overlap with part of CHRNA7.