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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

From: Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

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