Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Table 4 UPD detected in 100 children with idiopathic ID from the new cohort.

Patient	Chromosome	Affected Region			SNPs in Region of UPD					Interpretation
		Start	End	Size (bp)	Total	Paternal UPD	Maternal UPD	BPI*	MI*
6904	11	196,767	44,589,530	44,392,763	9,857	h = 192* i = 456*	h = 89 i = 1	59	8	Paternal Isodisomy
1658	16	14,139	11,559,620	11,545,481	2,837	h = 0 i = 1	h = 193 i = 188	5	19	Maternal Isodisomy
		11,559,620	84,641,380	73,081,760	11,698	h = 0 i = 0	h = 638 i = 3	12	95	Maternal Heterodisomy
		84,641,383	88,668,856	4,027,473	772	h = 0 i = 0	h = 25 i = 56	1	7	Maternal Isodisomy

The table includes all UPD detected by 500 K GeneChip^® AGH and confirmed by an independent method in 100 children with idiopathic ID. All mendelian inconsistencies observed were single. SNPs that are not listed as paternal UPD, maternal UPD, BPI* or MI* were uninformative with respect to UPD. Breakpoints are shown on Human Genome Assembly Build 36.1.
* Abbreviations used: h = heterodisomy, i = isodisomy, BPI = biparental inheritance, MI = mendelian inconsistency.

ISSN: 1471-2164