Table 3 Summary of the eight heterozygous DECIPHER CNV cases at 12p11.21-12p11.23.
Decipher ID | Copy number variation | Cytogenetic band | Genomic coordinates [hg38] (size) | Inheritance | Phenotype |
|---|---|---|---|---|---|
DCP401302 | Duplication | 12p11.23 | 27,134,884–27,634,952 (500 kb) | De novo | Arrhythmia, autistic behavior, hypertelorism, intellectual disability, mitral regurgitation, thick lower lip vermilion |
DCP282722 | Deletion | 12p11.23 | 27,153,357–27,607,134 (454 Kb) | De novo | Cleft palate, microcephaly, secundum atrial septal defect, small weight between 0.4th and 2nd centiles |
DCP331121 | Duplication | 12p11.23 | 27,153,357–27,449,723 (296 kb) | Maternal | Seizures, epilepsy, prepubertal |
DCP331701 | Duplication | 12p11.23 | 27,178,339–27,607,134 (429 kb) | Maternal | Dystonia, mild developmental delay, no dysmorphism, prepubertal |
DCP308811 | Duplication | 12p11.22 | 27,929,322–27,999,621 (70 Kb) | Maternal | Radial bowing, short humerus, brachydactyly type A1 |
DCP367151 | Duplication | 12p11.21-12p11.23 | 29,151,249–31,658,390 (2.51 Mb) | Unknown | Autistic behavior, behavioral abnormality, intellectual disability, macrocephaly, poor fine motor coordination |
DCP288575 | Deletion | 12p11.22 | 29,755,672–29,930,757 (175 Kb) | Paternal | Autistic behavior, normal intelligence, autism spectrum disorder, prepubertal |
DCP288321 | Deletion | 12p11.21 | 31,128,897–31,240,772 (112 Kb) | Unknown | Dystonia, Charcot-Marie-Tooth type 1A, prepubertal |
