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Table 3 Summary of phenotypes in patients with validated pathogenic or possibly pathogenic CNVs

From: Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

ID Chr CNV Start* Size* Pathogenicity Phenotype
1815 6 DEL 111 807 663 9 889 630 Likely MR, microcephaly, epicanthic folds, small ears, hypoplastic lobes, micrognathia,
brachycephaly, hypotonia
7531 9 DEL 139 496 489 333 935 Likely Moderate global developmental delay, microcephaly, flat face, upslanting palpebral
fissures, hypertelorism, synophrysm, anteverted nares, hypoplasia of the
amygdalo-hippocampic complex
1056 13 DEL 107 190 506 2 206 948 Likely Moderate MR, upslanting palpebral fissures, retrognathia
4821 16 DEL 3 862 993 78 891 Likely Moderate MR, microcephaly, short stature, bilateral glaucoma, bilateral
colobomas of the optic nerves, neuro-sensorial deafness, large ASD, epicanthic
folds, low nasal septum, preauricular pits, low set ears, broad distal phalanges
of all fingers and toes, cryptorchidy, hypotonia
3921 17 DEL 41 062 469 657 364 Likely Mild MR, sagittal craniosynostosis, malar hypoplasia, mild retrognathia, short
and upslanting palpebral fissures, low set ears, high arched palate, broad
proximal phalangeal joints of the hands, unilateral cryptorchidism
9609 22 DEL 19 062 809 728 798 Likely Moderate MR, microcephaly, short stature, down-slanting palpebral fissures,
low-set ears, wide nasal base, retrognathia, metopic craniosynostosis, cleft
palate, partial agenesis of the corpus callosum, tetralogy of Fallot
8960 X DUP 67 416 262 7 057 217 Likely Moderate MR, brachycephaly, bilateral epicanthic folds, posteriorly rotated
ears with hypoplastic helix and hypotnic
9609 21 DEL 33 902 218 152 885 Possible See above pathogenic mutation
8327 22 DUP 19 412 033 378 797 Possible Mild MR, small stature, Pierre Robin sequence with cleft palate
  1. DEL = Deletion; DUP = Amplification
  2. *Start/end coordinates determined from largest region of overlap between any two platforms; size is the difference between these two coordinates (Build 36).