Region | No. | Size (Mb) | Parental follow-up |
---|---|---|---|
Charcot Marie Tooth del OMIM 118200 | 1 | 1.380 | NR |
STS del OMIM 300747 | 1 | 1.481 | NR |
Sotos del OMIM 117550 | 1 | 3.594 | NR |
SHOX del OMIM 312865 | 2 | 0.877 1.420 | NR |
22q dup syndrome OMIM 608363 | 3 | 1.492–3.157 | Pat, NR, NR |
MSH2 OMIM 609309 | 1 | 0.103 | NR |
nsCNV 8p23.3, 15q13.2q13.3, 16p13.11, 16p11.2, 16p13.11 | 9 | 0.365–3.643 | 3 pat, 2 mat, 2 DN, 2 NR |
4p16.3x3 including the ZNF141 gene OMIM 194648 | 1 | 0.469 | NR |
15q25.2q25.3x3 | 1 | 3.018 | DN |
4q27x1 including the ANXA5 gene OMIM 131230 | 1 | 0.551 | Mat |
Unbalanced translocation between X and Y | 1 | 3.505, 8.460 | NA |
STS dup OMIM 300747 | 2 | 1.575 | NR, pat |
Mosaic XXX and VOUS | 1 | 1.211 | NR |