Patients included in the study and the intervals of recombination on chromosome 7
| SRS patient* | UPD† | Sex | Recomb region begins | Recomb region ends | Region length (Mb) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Location (bp) | SNP | Location (bp) | |||||||||||
| Recomb, recombination, iso, isodisomy; hetero, heterodisomy. *Five of the patients have been previously reported: matUPD7 II, III, IV, and V in Hannula et a.16 and matUPD7q31-qter in Hannula et al.9 Patient matUPD7 VII was first reported in this study. | ||||||||||||||
| matUPD I | Isodisomy | M | ||||||||||||
| matUPD7 II | Iso/hetero | M | rs718939 | 41639971 | rs1006106 | 42903835 | 1.3 | |||||||
| TSC0229102 | 90326711 | rs961262 | 94343583 | 4.0 | ||||||||||
| rs1074977 | 138899924 | rs1181740 | 140540398 | 1.6 | ||||||||||
| matUPD7 III | Iso/hetero | F | rs721317 | 25095041 | rs723699 | 27371748 | 2.3 | |||||||
| rs951988 | 97373871 | rs2017179 | 102815675 | 5.4 | ||||||||||
| rs4520080 | 144571391 | rs1406288 | 146501671 | 1.9 | ||||||||||
| matUPD7 IV | Iso/hetero | F | rs28190 | 31799078 | rs1649212 | 34720301 | 2.9 | |||||||
| rs2382591 | 61488653 | rs723340 | 69621754 | 8.1 | ||||||||||
| TSC0076331 | 97964283 | rs727175 | 102032311 | 4.1 | ||||||||||
| rs754920 | 128022374 | rs726284 | 131063654 | 3.0 | ||||||||||
| matUPD7 VII | Isodisomy | F | ||||||||||||
| matUPD7q31-qter | Iso 7q31-qter | F | rs727505 | 124016584 | rs1419702 | 124799900 | 0.8 | |||||||