Overview of the studied sSMCs
| Case ID | Previous publication | Clinical summary | Gender | Cytogenomic description | Genome data | Tissue | Mosaicism degree (%) | Resolved |
|---|---|---|---|---|---|---|---|---|
| RD_P276 | Anderlid et al. 2001 | ID, DD, DF | Male | + r(5)(p13.3 → p13.2::p12 → q11.1) | srGS, lrGS | Blood | 13 | Yes |
| RD_P278 | Anderlid et al. 2001; Blennow et al. 1993 | DF, neurological problems | Male | + r(7)(p11.2 → p11.2::q11.22 → p11.2) | srGS, lrGS | Blood | 100 | Yes |
| RD_P273 | Anderlid et al. 2001 | DF, DD | Female | + r(8)(q11.1 → q11.21::q21.13 → q11.22) | srGS, lrGS | LCL | 40 | Yes |
| RD_P272 | Anderlid et al. 2001 | ID, DD | Female | + r(9)(p21.1 → p21.1::q21.31 → q21.31::p12→p21.1::p11.2 → ?::? → p21.1) | srGS, lrGS | Blood | 36 | Yesa |
| RD_P274 | Unpublished | ID, DF | Male | + r(10)(p12 → p11.2) | srGS, lrGS | LCL | 66 | No |
| RD_P166 | Unpublished | DD, short stature | Female | + r(13)(? → p11.2::q21.1 → q31.1::q12.3 → ?) | srGS, lrGS | LCL | 87 | Yesb |
| RD_P550 | Unpublished | Short stature | Female | + r(14)(p11.2q11.2) | lrGS, OGM | Blood | 46 | Yes |
| RD_P275 | Anderlid et al. 2001 | ID, DD | Male | + r(20)(p13 → p13::q13.31 → q13.33::p11.21 → q12) | srGS, lrGS | LCL | 48 | Yes |
| RD_P328 | Blennow et al. 1992 | ID, DD | Female | + der(7)(Xpter → Xp22.2::7q11.23 → 7p13::5q35.3 → 5qter) | srGS, lrGS | LCL | 100 | Yes |
| RD_P586 | Unpublished | Mild ID, ataxia | Female | + der(X)(qter → q27.3::q22.3 → q21.31::q21.31 → q21.2::q12 → q12::p11.1 → q13.3::q27.3 → q27.2::q21.1 → q21.2::q13.3 → q21.1::q21.31 → q21.31::q27.3 → qter) | lrGS, OGM | Blood | 100 | Yes |
[i] (ID) Intellectual disability; (DD) developmental delay; (DF) dysmorphic features; (LCL) lymphoblastoid cell lines.
[ii] aCentromeric breakpoints are not mapped.
[iii] bBreakpoints on acrocentric p-arm are not mapped. Full ISCN and HGVS nomenclature is in Supplemental Table S3.