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

Table 3

Details of other microdeletions and/or duplications in FISH negative suspected 22q11.2 microdeletion cases.

DBN	Locus/loci	CNV	Start	End	Size	Genes	Gene details/disease
88	15q11.2	3	22754322	23222284	0.46	6	Prader-Willi/Angelman syndrome and chromosome 15q11-q13 duplication syndrome (TUBGCP5; CYFIP1; CYFIP1; NIPA2; NIPA1; WHAMML1)
102	16p11.2	1	29661217	30347731	0.68	46	C16orf54; MAZ; PRRT2; C16orf53; MVP; MVP; CDIPT; LOC440356; LOC440356; SEZ6L2; ASPHD1; KCTD13; TMEM219; TAOK2; HIRIP3; INO80E; DOC2A; FLJ25404; FAM57B; ALDOA; ALDOA; ALDOA; ALDOA; PPP4C; TBX6; YPEL3; YPEL3; GDPD3; MAPK3; LOC100271831; CORO1A; LOC606724; BOLA2; GIYD1; SULT1A4; SULT1A4; LOC388242; LOC613037; IMAA; CD2BP2; TBC1D10B; MYLPF; SEPT1; ZNF48; ZNF771; DCTPP1
197	1q21.1	3	144943150	146916824	1.9	24	PDZK1; GPR89A; GPR89C; PDZK1; LOC200030; NBPF11; LOC728989; PRKAB2; PDIA3P; FMO5; FMO5; CHD1L; BCL9; ACP6; GJA5; GJA8; GPR89B; GPR89C; PDZK1; LOC200030; NBPF11; FLJ39739; PPIAL4B; PPIAL4A; NBPF14; PPIAL4F; NBPF15; NBPF15; NBPF16; PPIAL4E; NBPF16; PPIAL4F; LOC645166; LOC645166
229	15q11.1	3	20192086	22508324	2.3	13	GOLGA6L6; GOLGA8C; BCL8; POTEB; NF1P1; LOC646214; CXADR; POTEB; NF1P1; LOC727924; OR4M2; OR4N4; OR4N3P
	q11.2

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).