Table 2.
Number of 16p11.2 CNV Carriers and Non-carrier Family Members Analyzed
| Male Probands | Female Probands | Mother | Father | Sibling | Other Family Membera | Total | Trios | Quads | |
|---|---|---|---|---|---|---|---|---|---|
| 16p11.2 Deletion Carriers | |||||||||
| De novob | 37 | 24 | 0 | 0 | 1 | 0 | 62 | 22 | 27 |
| Inherited | 3 | 6 | 0 | 0 | 4 | 0 | 13 | 1 | 2 |
| Unknown | 10 | 10 | 3 | 4 | 0 | 0 | 27 | NA | NA |
| Total | 50 | 40 | 3 | 4 | 5 | 0 | 102 | 23 | 29 |
| 16p11.2 Duplication Carriers | |||||||||
| De novo | 3 | 5 | 0 | 2 | 0 | 0 | 10 | 3 | 3 |
| Inherited | 16 | 7 | 2 | 4 | 6 | 13 | 48 | 9 | 9 |
| Unknown | 1 | 4 | 9 | 8 | 0 | 4 | 26 | NA | NA |
| Total | 20 | 16 | 11 | 14 | 6 | 17 | 84 | 12 | 12 |
| Non-carriers | |||||||||
| Total | NA | NA | 94 | 69 | 73 | 27 | 263 | NA | NA |
Abbreviation is as follows: NA, not applicable.
a
Other family members include grandparents, half-siblings, aunts, uncles, and cousins.
b
Includes one proband with a confirmed deletion resulting from germline mosaicism.