Results of microsatellite typing in the patient and her parents
| Marker | Position (kb) | Proband | Mother | Father | Status |
|---|---|---|---|---|---|
| The asterisks indicate the paternal alleles whit an increased ratio of fluorescence intensity with respect to those of maternal origin. | |||||
| del(P) and dup(P), paternal origin of the deletion and the duplication, respectively; U, uninformative results; ?, results are ambiguous, probably because of duplication in one cell line and deletion in the other. | |||||
| D8S504 | 1004 | 200.46 | 200.00 | 202.03/205.88 | del(P) |
| D8S264 | 2117 | 132.46 | 126.73/132.31 | 124.78/136.42 | del(P) |
| D8S201 | 3027 | 255.9 | 255.8 | 263.3 | del(P) |
| D8S1824 | 3540 | 242.38 | 242.50/246.29 | 228.84/238.49 | del(P) |
| D8S262 | 3664 | 111.89 | 111.79/113.67 | 107.92/113.72 | del(P) |
| D8S518 | 4475 | 226.60 | 226.50/242.04 | 226.58/242.03 | U |
| D8S277 | 6504 | 153.64 | 153.77 | 153.72/169.79 | U |
| D8S1819 | 6737 | 203.20/218.60 | 203.21/218.57 | 218.63 | N |
| D8S503 | 9270 | 213.85(*)/215.71 | 215.75/223.47 | 211.97/213.82 | ? |
| D8S1721 | 10178 | 167.55/200.57(*) | 167.68 | 190.98/200.57 | ? |
| D8S520 | 10593 | 190.76 | 190.79 | 188.88/190.77 | U |
| D8S550 | 10990 | 245.35/262.73 | 262.86/264.65 | 245.35/253.10 | ? |
| D8S265 | 11317 | 210.95(*)/212.92 | 204.15/212.84 | 210.5 | ? |
| D8S552 | 12752 | 164.82/172.76* | 164.82/172.67 | 164.84/172.72 | dup(P) |
| D8S511 | 14690 | 129.94 | 130.01/131.92 | 128.03/129.94 | U |
| D8S549 | 15660 | 164.76/166.75* | 164.77/168.67* | 162.69/166.71 | dup(P) |
| D8S254 | 16618 | 61.44/66.35 | 61.42/66.38 | 61.42/66.38 | U |
| D8S261 | 17836 | 123.58 | 123.62/133.52 | 123.40 | U |
| D8S258 | 20377 | 143.80/145.97* | 143.79/145.97 | 145.97 | dup(P) |
| D8S282 | 21425 | 262.27*/264.08 | 258.22/264.09 | 258.15/262.15 | dup(P) |
| D8S1734 | 22817 | 112.84*/114.68 | 114.65 | 112.80/114.67 | dup(P) |
| D8S1771 | 25463 | 224.32/226.22 | 224.32/226.14 | 224.12/233.84 | ? |
| D8S1809 | 28213 | 158.46 | 158.46 | 158.46/166.02 | U |
| D8S278 | 32606 | 231.37/233.39 | 231.34/237.24 | 233.16 | ? |
| D8S513 | 33727 | 198.33*/202.08 | 198.21/201.99* | 196.41/198.31 | dup(P) |
| D8S1750 | 35470 | 211.86/217.55* | 211.68/215.53 | 211.70/217.47 | dup(P) |
| D8S1821 | 38369 | 145.73/163.02* | 143.55/145.73 | 141.42/162.85 | dup(P) |
| D8S255 | 39902 | 117.25 | 117.26 | 117.17 | U |
| D8S268 | 41264 | 257.12*/259.06 | 256.93/258.92 | 256.86 | dup(P) |
| D8S1115 | 42554 | 160.45 | 157.09/160.34 | 160.23 | U |
| D8S531 | 49074 | 114.91 | 114.91 | 114.93/120.59 | U |