SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome

Table 10

Clinical details of likely pathogenic CNVs detected by SNP microarray.

Locus/loci	Microarray details	Genes	Clinical details
22q11.22; 7q11.21	0.4 mb duplication; 0.49 mb deletion	7; 3	2-year-old male with TOF
1q21.2	1.9 mb duplication	18	9-year-old male with TOF (operated)
19p13.11-12; 11p11.2	4.6 mb duplication; 3.1 mb duplication	35; 10	17-year-old female with TOF (operated)
1q31.3; Xq21.1-24; Xq27.2-28	3.8 mb triplication; 23.8 mb duplication; 6.7 mb duplication	13; 27; 18	13-year-old male with TOF (operated)
1q21.1; Xp22.33	1.3 mb duplication; 1.2 mb duplication	12; 10	4-year-old male with TOF (operated)
15q11.2; 10q11.22	2.2 mb deletion; 2.1 mb duplication	19; 23	One-month-old male with hypocalcaemia (Ca 5.6; PTH-46), convulsion, osteopenia, squint, small toe, deep furrow feet, and so forth (Figure 2)
22q11.23	0.26 mb duplication	2	6-year-old female with dysmorphism, square nose tip, proportionate short stature, cyanotic CHD (tricuspid atresia, ostium secundum ASD, etc.), clubbing, tracheal shift, right pneumothorax with lung collapse, right anotia, synophrys, pear shaped nose, webbed neck, and so forth