array[hg19] | size | Avg value | Gene deleted | Status | Heritage | Classification | |||
---|---|---|---|---|---|---|---|---|---|
Father | 13q12.11(20,797,139-21,097,970)x1. | 300,83 kb | -0,918 | GJB6 and CRYL1 | Ht | AR | Pathogenic | ||
Mother | 13q12.11(20,804,067-21,032,170)x1. | 228,10 kb | -0,964 | Partial deletion of GJB6 and CRYL1 | Ht | AR | Pathogenic | ||
AF fetus | 13q12.11(20,798,175-20,803,032)x1 | 6,87 kb | -1,403 | GJB6 and CRYL1 | Hm | AR | Pathogenic | ||
-6,477 | |||||||||
-1,310 |