Table 1 Results of microsatellite typing in the patient and her parents.
| Marker | Position (kb) | Proband | Mother | Father | Status |
|---|---|---|---|---|---|
| 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 |
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.