Table 2 Imbalance >10 Mb identified by array CGH
Imbalance | No of samples | Size (Mb) | Parental follow-up |
|---|---|---|---|
Trisomy | 136 | Whole chromosome | NA |
Mosaic aneuploidy | 9 | Whole chromosome | NA |
Monosomy 21 | 4 | Whole chromosome | 4 DN |
>1 chromosome aneuploidy | 6 | NA | |
Aneuploidy plus additional imbalance | 4 | 1.445-whole chromosome | NR |
Unbalanced translocations | 18 | 1.125–120.448 | all inherited from carrier parent |
Tetrasomy 18p OMIM 614290 | 1 | 14.749 | NR |
Wolf-Hirschhorn syndrome OMIM 194190 | 1 | 39.147 | NR |
Pallister-Killian OMIM 601803 | 1 | 34.387 | NA |
6pter-p24 deletion syndrome OMIM 612582 | 1 | 11.433 | NR |
18p deletion syndrome OMIM 146390 | 1 | 14.749 | NR |
16q22 deletion syndrome OMIM 614541 | 1 | 14.560 | NR |
Complex imbalance | 5 | 1.019–156.491 | 2 DN 3 NR |
Ring/marker | 3 | 23.215–35.232 | NR |
Terminal deletion | 2 | 14.714, 23.215 | NR |
Interstitial deletion | 1 | 11.218 | DN |
Monosomy 18p trisomy 18q | 1 | Whole arm | NA |
2 imbalances | 2 | 5.721–63.218 | DN |