The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Table 1 Breakpoints (BPs) involved in the t(2;5;22), mapped by FISH, a-CGH and MPS, and truncated genes

Chr	BPs mapped by FISH		BPs mapped by a-CGH		BPs mapped by MPS		Band	Disrupted gene
	Position (hg19)	Interval (bp)	Position (hg19)	Interval (bp)	Position (hg19)	Interval (bp)
chr2	65,209,004-65,265,044	56,040			65,218,054-65,220,481	2,427	2p14	SLC1A4
chr2	66,540,604-66,723,065	182,461			66,646,777-66,652,554	5,777	2p14	MEIS1-AS3
chr5			15,065,696-15,097,402	31,707	15,069,309-15,073,606	4,297	5p15.1
chr5			16,551,445-16,590,384	38,940	16,552,845-16,557,142	4,297	5p15.1	FAM134B
chr5					18,178,446-18,182,480	4,034	5p15.1
chr5					21,162,845-21,167,142	4,297	5p14.3
chr5					25,131,744-25,133,892	2,148	5p14.1
chr5			123,737,596-123,798,118	60,523	123,785,877-123,790,174	4,297	5q23.2
chr5			130,432,974 – 130,476,355	43,382	130,437,756-130,442,053	4,297	5q23.3
chr22	28,654,643-28,691,257	36,614			28,658,943-28,660,443	1,500	22q12.1	TTC28

ISSN: 1755-8166