Summary of unusual patient karyotype and cytogenetic information
| Patient | Karyotype | Comments |
|---|---|---|
| 4 | 46,XX,dic(22).ish dic(22;22)(q13;q11.2) | Dicentric |
| 9 | 46,XX,der(22)t(19;22) | Maternal familial |
| 10/LM | 46,XX,t(9;22)(q?;q13) | |
| 12 | 46,XX,der(22)t(1;22)(q44;q13.32) mat.ish der(22)t(1;22)(D22S39-) | Maternal familial |
| 13 | 45,XX,-21,-22,+rea(21;22),ish.ins (21;22)(21pter-21p11.2::22q13.3- 22q11.2::21p11.2–21q2)(ARSA-) | Pseudodicentric, no loss of chromosome 21 material, inverted insertion of chromosome 22 material with deletion of 22q13 |
| 20 | 46,XX,der(22)t(22;acro)(q13.33;p12) | De novo, dicentric |
| 26 | 46,XX,der(22)t(22;acro).ish del(22)(q13.3) | De novo, dicentric |
| 31 | 46,XX,der(22)t(20;22)(p13.2;q13.3) | Paternal familial |
| 32 | 46,XY,der(22)t(22;acro)(q13.11;p14)[4]/47, XY, der(22)t(22;acro),+mar[16] | De novo, dicentric, marker chromosome of unknown origin |
| 43 | 46,XY,del(22)(q13.3) [18]/46,XY [2] | Mosaic 90% deleted in lymphocytes |
| 57 | 46,X?,der(22)t(13;22)(p12;q13.3) | Familial translocation |