Table 4. Detection of breakpoints and junction fragment analysis in some interstitial 19p13.3 deletion patients.

Patient	Genomic rearrangement	Deletion size (Mb)	Micro-homology at the breakpoint	Change of the sequence at the breakpoint	Repetitive elements at the breakpoints distal/proximal	Most probable Mechanism
01	chr19.hg19:g.( 3,324,025_ 3,324,026)_( 4,870,882_4,870,883)del	1.546	TTTC	Not detected	AluJr/AluSp	NEHJ or MMEJ
02	chr19.hg19:g.( 3,874,599_3,874,600)_( 4,183,343_4,183,344)del	0.309	TGG	chr19.hg19:g.3874596delT	DNAMer82/L2b (LINE)	NEHJ or MMEJ
03a	chr19.hg19:g.(3,227,720_3,234,036)_( 4,823,723_4,830,039)del	1.491			SINE/SINE	NEHJ or MMEJ
04	chr19.hg19:g.( 3,932,784_3,932,785)_(4,523,183_4,523,184)del	0.590	CCGCCTCGGCCTCCCAA;AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCC	Not detected	AluSx3/AluSx	MMEJ
05	chr19.hg19:g.(3,279,941_3,279,942)_(4,168,106_4,168,107)del	0.888	ATG	chr19.hg19:g.(3279937dupT; 3279938A>T)	AluSx/AluSq	NEHJ or MMEJ
06	chr19.hg19:g.( 3,789,486_3,789,487)_(3,988,746_3,988,747)del	0.199	CCCAG	chr19.hg19:g.(3789465GGGGAACCAAGGTCTTGAG>TCCTAGCACCGGGCCTGTA; 3789485dupAT)	AluSc8/near to DNAMer113	MMEJ
07	chr19.hg19:g.(3,295,067_3,295,068)_(4,996,928_4,996,929)del	1.700	GCCCTG	chr19.hg19:g.4996938dupXCCTTCXTT	DNAMer20/-	MMEJ
09a	chr19.hg19:g.(3,184,457_3,190,773)_(3,448,532_3,454,848)del chr19.hg19:g.(3,579,614_3,585,930)_(4,621,011_ 4,627,327)del	0.257/1.035			Near toGC-rich/ between AluSX1 and MIR3/Near toC-rich/ AluSq2	Replicative –based repair mechanism
12	chr19.hg19:g.(3,451,210_3,45,1211)_(4,600,362_4,600,363)del	1.149	GCA	Not detected	near Limb7(LINE)/near to AluJo	NEHJ
13a	chr19.hg19:g.(3,397,174_3,403,490)_(3,405,207_3,411,524)dup chr19.hg19:g.(3,406,937_3,413,253)_(4,195,610_4,201,926)del	0.00177/0.781			MIR/near toMIRC near to AluSx/near to AluSx/AluSg	Replicative –based repair mechanism

^acases under in silico analysis.