Table 3.

Regions of runs of homozygosity within our patient based on human genome build GRCh37/hg19

Chromosome	Cytogenetic band	Genomic location	Size of run (bp)
6	p25.3-p25.1	211,941-5,861,181	5,649,241
6	p24.3-p21.2	10,297,504-37,700,562	27,403,059
6	q12-q14.1	69,878,396-78,700,562	8,266,676
6	q21-q22.33	110,749,132 -128,732,846	17,893,715
7	p13-p12.1	44,162,384-52,104,941	7,942,558
10	q23.31-q25.2	91,297,540-113,415,612	22,118,073
11	p12-p11.12	36,892,152-49,401,125	12,508,974
11	q11-q13.1	55,196,818-64,306,768	9,109,951
		Total ROH size:	110,982,247

bp base pairs, ROH runs of homozygosity