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

Table 1

Details of chromosomal abnormalities in FISH negative suspected 22q11.2 microdeletion cases.

DBN	Locus/loci	CNV	Start	End	Size (mb)	Genes	Disease
93	18p11.32-p11.21	3	2842	15365878	15.3	89	Trisomy 18
	18q11.1-q23	3	16786754	76115554	59.3	241
98	All chromosomes	3					Triploidy (mosaicism confirmed by FISH)
103	18q21.31-q23	1	54144903	78014582	23.8		Partial 18q monosomy
115	11q23.2-q25	3	113077541	134944006	21.8		Partial 11q trisomy (Jacobsen, Bartter 2, 11q)
116	All chromosomes	3					Triploidy (mosaicism confirmed by FISH)
205	21q11.2 q21.1	3	13609442	46923252	33.3	256	Trisomy 21
	q21.2 q21.3
	q22.11 q22.12
	q22.13 q22.2
	q22.3

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).