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

Table 9

Clinical details of other pathogenic CNVs detected by SNP microarray.

Microarray details	Genes	Diagnosis	Clinical details	Other CNVs
15q11.2; 0.46 mb duplication	6	15q11-q13 duplication	Three-month-old male with TOF, feeding difficulty, hypocalcemia, dysmorphism, poly/syndactyle, hypoplastic mandible, IUGR, and so forth	10q11.22 ()
16p11.2; 0.68 mb deletion	46	16p11.2 deletion	4-month-male with CHD (DORV, PS/pulmonary stenosis), blepharophimosis, ptosis, and so forth	15q12 (); 14q11.2 ()
1q21.1; 1.9 mb duplication	24	1q21.1 duplication	Male of 2+ years with TOF, broad nose, thin upper lip, absent philtrum, small and low set ears, antimongoloid slant, telecanthus, long slender fingers, widow peak, and so forth	11p11.12 ()
15q11.1 q11.2; 2.3 mb duplication	13	15q11.1 q11.2 duplication	1-year-old male with CHD (VSD), dysmorphism, GDD, and so forth	14q11.2 ()