Table 1.
Genetic changes detected by aCGH in the family. The complete list of CNVs detected in the patient are shown in supplementary Table S2 including its markers (rs identifiers), size, and chromosomal position. The CGH results were compared with data in ChAs 3.3 NetAffix Build 33.2(Hg19) as reference. Known means that they have already been detected in other unrelated individuals
| De novo CNV alterations in each family member | |||||||
|---|---|---|---|---|---|---|---|
| Small CNV (1-3kbp) | Large CNV losses (1–2 Mbp) | ||||||
| CNV losses (autosomes/sex chrom) | CNV gains (autosomes/sex chrom) | ||||||
| Number | Previously known | New “de novo” | Number | Previously known | New “de novo” | Number | |
| Father | 221 | 190/31 | 18/6 | 142 | 23/119 | 1/36 | 89 |
| Mother | 316 | 272/44 | 39/9 | 209 | 33/176 | 6/53 | 105 |
| Daughter | 352 | 261/92 | 34/25 | 421 | 68/353 | 5/108 | 106 |
| Son (patient) | 260 | 228/32 | 31/6 | 177 | 28/149 | 28/149 | 95 |