Table 2. Rarely reported pathogenic genomic imbalances verified in the present study.

Patient	CNV region	Size (Mb)	Chromosomal position (hg19)	Phenotype	References
P13	2p21p16.3 deletion	2.98	46156868–49143895	DD, facial dysmorphism	287075 from DECIPHER nssv3396502 from ISCA [31]
P21	3p21.31 deletion	1.46	48770345–50237479	DD, facial dysmorphism, midgut volvulus, recurrent edematous regions on foot/hand/lip	[32, 33]
P55	10p11.22p11.21 deletion	4.22	31742277–35970537	DD, thin corpus callosum, mild myelination delay facial dysmorphism	296553 from DECIPHER
P68	14q24.2 deletion	3.3	70304616–73614733	DD, facial dysmorphism, seizures, congenital kyphoscoliosis, nystagmus	[34]
P98	21q22.13 deletion	1	37906818–38913286	DD, facial dysmorphism, seizures, microcephaly, mild ventriculomegaly with gyration anomaly in right perisylvian region cleft palate	258106 from DECIPHER [35]

Abbreviations: CNV, copy number variation; DD, developmental delay.