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

Table 2

Details of 22q11.2 microdeletion and/or microduplication in FISH negative suspected 22q11.2 microdeletion cases.

DBN	FISH	Locus	CNV	Start	End	Size (mb)	Genes (no)	Gene details
42	Not done due to frozen blood sample	22q11.21	1	18877787	21914652	3	58	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2; DGCR2; DGCR14; TSSK2; GSC2; SLC25A1; CLTCL1; HIRA; MRPL40; C22orf39; C22orf39; UFD1L; CDC45L; CLDN5; LOC150185; SEPT5; GP1BB; TBX1; GNB1L; C22orf29; TXNRD2; COMT; COMT; COMT; COMT; ARVCF; C22orf25; MIR185; DGCR8; MIR1306; TRMT2A; RANBP1; ZDHHC8; Em:AC006547.7; RTN4R; MIR1286; DGCR6L; LOC375133; RIMBP3; ZNF74; SCARF2; KLHL22; MED15; POM121-like 1; DKFZp434N035; PI4KA; SERPIND1; SNAP29; CRKL; AIFM3; AIFM3; LZTR1; THAP7; FLJ39582; MGC16703; P2RX6; P2RX6; SLC7A4; P2RX6P; LOC400891
47	Not done due to frozen blood sample	22q11.21	1	17257787	19792353	2.53	68	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2; DGCR11; DGCR14; TSSK2; GSC2; SLC25A1; CLTCL1; HIRA; MRPL40; C22orf39; C22orf39; UFD1L; CDC45L; CLDN5; LOC150185; SEPT5; GP1BB; TBX1; GNB1L; C22orf29; TXNRD2; COMT; COMT; COMT; COMT; ARVCF; C22orf25; MIR185; DGCR8; MIR1306; TRMT2A; RANBP1; ZDHHC8; LOC150197; RTN4R; MIR1286; DGCR6L; LOC375133; RIMBP3; ZNF74; SCARF2; KLHL22; MED15; POM121L4P; TMEM191A; PI4KA; SERPIND1; SNAP29; CRKL; AIFM3; AIFM3; LZTR1; THAP7; FLJ39582; MGC16703; P2RX6; P2RX6; SLC7A4; P2RX6P; LOC400891
48	Not done due to frozen blood sample	22q11.21	1	19405537	19792353	0.38	16	PI4KA; SERPIND1; SNAP29; CRKL; AIFM3; AIFM3; LZTR1; THAP7; FLJ39582; MGC16703; P2RX6; P2RX6; SLC7A4; P2RX6P; LOC400891; TBX1
87	Not done due to sample clotting	22q11.21	1	18877787	21050552	2.1	47	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2; DGCR2; DGCR14; TSSK2; GSC2; SLC25A1; CLTCL1; HIRA; MRPL40; C22orf39; C22orf39; UFD1L; CDC45L; CLDN5; LOC150185; SEPT5; GP1BB; TBX1; GNB1L; C22orf29; TXNRD2; COMT; COMT; COMT; COMT; ARVCF; C22orf25; MIR185; DGCR8; MIR1306; TRMT2A; RANBP1; ZDHHC8; Em:AC006547.7; RTN4R; MIR1286; DGCR6L; LOC375133; RIMBP3; ZNF74; SCARF2; KLHL22; MED15; POM121-like 1
182	Not done due to sample clotting	22q11.21	1	18877787	21811991	2.9	69	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2; DGCR2; DGCR14; TSSK2; GSC2; SLC25A1; CLTCL1; HIRA; MRPL40; C22orf39; C22orf39; UFD1L; CDC45L; CLDN5; LOC150185; SEPT5; GP1BB; TBX1; GNB1L; C22orf29; TXNRD2; COMT; COMT; COMT; COMT; ARVCF; C22orf25; MIR185; DGCR8; MIR1306; TRMT2A; RANBP1; ZDHHC8; Em:AC006547.7; RTN4R; MIR1286; DGCR6L; LOC375133; RIMBP3; ZNF74; SCARF2; KLHL22; MED15; POM121-like 1; DKFZp434N035; PI4KA; SERPIND1; SNAP29; CRKL; AIFM3; AIFM3; LZTR1; THAP7; FLJ39582; MGC16703; P2RX6; P2RX6; SLC7A4; P2RX6P; LOC400891; POM121L8P; RIMBP3C; RIMBP3B; HIC2
188	Not done due to sample clotting	22q11.21	1	18877787	21798907	2.9	69	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2; DGCR2; DGCR14; TSSK2; GSC2; SLC25A1; CLTCL1; HIRA; MRPL40; C22orf39; C22orf39; UFD1L; CDC45L; CLDN5; LOC150185; SEPT5; GP1BB; TBX1; GNB1L; C22orf29; TXNRD2; COMT; COMT; COMT; COMT; ARVCF; C22orf25; MIR185; DGCR8; MIR1306; TRMT2A; RANBP1; ZDHHC8; Em:AC006547.7; RTN4R; MIR1286; DGCR6L; LOC375133; RIMBP3; ZNF74; SCARF2; KLHL22; MED15; POM121-like 1; DKFZp434N035; PI4KA; SERPIND1; SNAP29; CRKL; AIFM3; AIFM3; LZTR1; THAP7; FLJ39582; MGC16703; P2RX6; P2RX6; SLC7A4; P2RX6P; LOC400891; POM121L8P; RIMBP3C; RIMBP3B; HIC2
191	Normal	22q11.21	3	18844632	19033532	0.18	6	DGCR6; PRODH; KIAA1647; DGCR9; DGCR10; DGCR2
244	Not done due to sample clotting	22q11.21	1	19004730	21800471	2.79	68	DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, MIR4761, ARVCF, TANGO2, MIR185, DGCR8, MIR3618, MIR1306, TRMT2A, RANBP1, ZDHHC8, LOC388849, LOC284865, LINC00896, RTN4R, MIR1286, DGCR6L, LOC729444, TMEM191B, PI4KAP1, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, THAP7-AS1, TUBA3FP, P2RX6, SLC7A4, P2RX6P, LOC400891, BCRP2, POM121L8P, RIMBP3C, RIMBP3B, HIC2

FISH negative means normal FISH result or FISH that failed or FISH not carried out due to cell lysis (frozen sample) or clotted sample.
DBN: database number (CNV 1 = deletion; CNV 3 = duplication).