Dosage per 15q11–q13 interval* | ||||||
---|---|---|---|---|---|---|
ID | Classification | CEN-BP1 | BP1-BP2 | BP2-BP3 | BP3-BP4 | BP4-TEL |
*Intervals are demarcated by the common PWS/AS breakpoints, see fig 1. | ||||||
†Profile suggests a deletion. However, microsatellite analysis did not include markers in this region. | ||||||
The dosage (number of copies) of the indicated interval is shown for the 25 individuals studied based on cytogenetic and microsatellite characterisation. | ||||||
N1 | Normal | 2 | 2 | 2 | 2 | 2 |
N2 | Normal | 2 | 2 | 2 | 2 | 2 |
N3 | Normal | 2 | 2 | 2 | 2 | 2 |
N4 | Normal | 2 | 2 | 2 | 2 | 2 |
N5 | Normal | 2 | 2 | 2 | 2 | 2 |
N6 | Normal | 2 | 2 | 2 | 2 | 2 |
P1 | PWS class I | 2 | 1 | 1 | 2 | 2 |
P2 | PWS class I | 2 | 1 | 1 | 2 | 2 |
P3 | AS class I | 2 | 1 | 1 | 2 | 2 |
P4 | PWS class I | 2 | 1 | 1 | 2 | 2 |
P5 | AS class I | 2 | 1 | 1 | 2 | 2 |
P6 | AS class I | 1† | 1 | 1 | 2 | 2 |
P7 | PWS class I | 2 | 1 | 1 | 2 | 2 |
P8 | AS class II | 2 | 2 | 1 | 2 | 2 |
P9 | PWS class I | 2 | 2 | 1 | 2 | 2 |
P10 | AS class II | 2 | 2 | 1 | 2 | 2 |
P11 | PWS unbalanced translocation | 1 | 1 | 1 | 2 | 2 |
P12 | Supernumerary Del(15) | 3 | 3 | 3 | 2 | 2 |
P13 | Interstitial 15q11–q13 triplication | 2 | 6 | 6 | 2 | 2 |
P14 | Pseudodicentric(15) small | 4 | 4 | 2 | 2 | 2 |
P15 | Pseudodicentric(15) medium | 4 | 4 | 4 | 2 | 2 |
P16 | Pseudodicentric(15) medium | 4 | 4 | 4 | 2 | 2 |
P17 | Pseudodicentric(15) large | 4 | 4 | 4 | 4 | 2 |
P18 | Pseudotricentric(15) | 6 | 6 | 6 | 2 | 2 |
P19 | Pseudotricentric(15) | 6 | 6 | 6 | 2 | 2 |