The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Table 1

Clinical and molecular features of five probands screened by high-resolution CMA technology.

Case	Clinical features	Age (yo)	Sex	CNV	Cytoband	Size (Mb)	Microarray nomenclature	Genes	Origin	LCRs start/stop	LCR identity
1	GDD	12	F	Loss	22q11.21	0.75	22q11.21(20,716,902–21,465,662) × 1	ZNF74, SCARF2, MED15, SNAP29, CRKL, LZTR1, SLC7A4	Inherited pat	B–D; B–D	99%; 99%
2	GDD	15	M	Loss	22q11.21	2.88	22q11.21(18,916,842–21,800,797) × 1	PRODH, DGCR5, DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, COMT, ARVCF, DGCR8, DGCR6L, ZNF74, SCARF2, MED15, SNAP29, CRKL, LZTR1, SLC7A4, HIC2	De novo	A–D; A–D	99%; 99%
3	GDD	6	M	Loss	22q11.21	0.27	22q11.23q12.1(25,656,237–25,930,479) × 1	IGLL3P, LRP5L, CRYBB2P1	De novo	After H	96%
4	GDD	14	M	Gain	22q11.21	0.34	22q11.23q12.1(25,656,237–25,994,326) × 3	MIR650	Inherited mat	After H	96%
5	GDD	4	F	Gain	22q11.21	0.69	22q11.22q11.23(22,962,196–23,652,512) × 3	POM121L1P, GGTLC2, IGLL5, RTDR1, GNAZ, RAB36, BCR, FBXW4P1	Inherited mat	After H	96%

GDD: Global Developmental Delay; Mat: maternal; Pat: paternal.