Table 1 Summary of CNVs detected by array-CGH among Patients with Williams Syndrome
Sample | Relation | Del/ Dup cytoband | Start-stop (bp) | Del/dup size (bp) | |
|---|---|---|---|---|---|
BL-680-11 | WBS | Del 7q11.23 | 72359696–73780263 | 1,420,568 | De Novo |
Dup 22q11.21 Del 10q11.21–q11.22 Del 15q11.2 | 17031614–19362298 45489823–46532996 18741716–20060120 | 2,330,685 dup 1,043,174 del 1,318,405 | Maternal – Maternal | ||
Bl–744–10 | Mo. Of 680 | Dup 22q11.21 Dup 15q11.2 | 17274835–19327233 18741716–20042737 | 2,052,398 1,301,022 | – |
BL-320–12 | WBS | Del 7q11.23 Dup 7q11.23 Dup 16p11.2 Dup 22q13.1 | 72367665–73777326 75025883–75856615 27875036–30927847 35944612–37522778 | 1,409,662 830,733, 3,052,812 1,578,167 | De novo Mat Mat. Mat. |
Bl-1771–10 | Mo of 320-12 | Dup 7q11.23 Dup 16p11.2 Dup 22q12.3–q13.1 | 72635638–75982676 28110613–31427854 34759898–38422701 | Dup 3.34 Mb 3,317,242 3,662,804 | |
BL-1810–10 | CHD | Del 9p13.1–p11.2 Dup10q11.22 Del15q11.2 | 38758232–45359386 46388078–47970570 18818949–20308073 | 6,601,155 1,582,493 1,489,125 | De novo |
BL-1787–10 | WBS | Del 7q11.23 Dup 10q11.22 Del 14q32.33 Del 15q11.2 | 72359696–73780263 46388078–47165895 105403001–15594248 18818949–19806019 | 1,420,568 777,818 191,248 987,071 | De novo |
Bl-272-14 | WBS | Del 7q11.23 | 72382983–73780263 | 1,397 | De novo |
Dup 16p13.3 Dup 11p15.4 Del 22q11.23 | 1961653–3066630 200300–2917590 22677959–22725353 | 1,105 Mb 2,717 Mb 47 Kb | – | ||
BL-1071-11 | WBS | Del 7q11.23 Dup 7q11.23 Dup 15q11.2 | 72338350–73780263 76271711–76421898 19537035–20366729 | 1,442 Mb 150 Kb 830 Kb | De Novo – Mat. |
BL-402–15 | WBS | Del 7q11.23 Dup 22q11.22 | 72730855–74339044 23056562–23245888 | 1.608 Mb 189 Kb | De Novo |
Bl-1072-11 | Mo. of 1071-11 | Del 7q34 Dup 15q11.2 | 141413352–141438563 19465359–20418384 | 25 Kb 953 Kb | – |
Bl–858-14 | WBS Lt. Pulm. St | Del 7q11.23 Dup22q11.22 | 72721408–74139390 23056562–23245888 | 1,418 189 Kb | De Novo |
BL-718-10 | CHD | Dup 7q11.23 | 72635638–75885557 | 3,25 Mb | – |
Bl-889-12 | Dysmorphic Pulm .St | Dup7q11.22–q11.23 | 71073911–75851988 | 4,778 Mb | – |
Del 7q34 Del 15q11.2 | 141396899–141438563 18741716–20335946 | 41,665 Kb 1,594 Mb | – | ||
BL-289-13 | Pulm. St | Dup 7q11.22–q11.23 | 70573442–75877956 | 5,304,515 | – |