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Table 1 Summary of patient’s CNVs detected by chromosomal microarray

From: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

Chromosome region Copy number variation Size Breakpointsa OMIM disease-causing genes involved Inheritance Role
2q34 Duplication 432 kb 210,021,463–210,453,149 / Father Likely benign
5q21.3q22.2 Deletion 3.6 Mb 108,730,323–112,313,646 SLC25A4, WDR36, APC De novo Pathogenic
7q21.12 Duplication 307 kb 87,811,283–88,118,091 ADAM22 Mother Likely benign
22q11.21 Deletion 2.5 Mb 18,919,942–21,440,514 PRODH, SLC25A1, CDC45L, GP1BB, TBX1, TXNRD2, COMT, TANGO2, RTN4R, SCARF2, PI4KA, HCF2 De novo Pathogenic
  1. aThe breakpoints are reported according to the 37 build (March 2009) of the Human Genome Reference consortium (GRch37/hg19)