Table 1 Summary of results
From: Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
Test | Patient | Father | Mother |
|---|---|---|---|
Array * | Xq27.3q28 (CTD-3109C8 > CTD-2341N11) x1 | Normal | Normal |
FMR1 | 30 repeats | 31 repeats | 30 and 31 repeats |
IDS activity | Normal | n.d. | n.d. |
X-inactivation | 100:0 ratio | n.d. | n.d. |