Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Table 2 De novo abnormalities detected by SNP array

Patient	Initial karyotype	Imbalance	Chromosomal region	Start ^a	End ^a	Size (bp)	Parental origin
Patients with clinically significant abnormalities
1^b	46,XY,der(4)t(4;acro p)(p16.3;acro p)dn	Deletion	4p16.3	17,764	558,839	541,076	Paternal
1^b	46,XY,der(4)t(4;acro p)(p16.3;acro p)dn	Duplication	4p16.2p16.3	577,581	4,812,859	4,235,279	Paternal
2	46,XY,t(5;18)(q12;p11.2)dn	Deletion	18p11.22p11.31	5,408,997	9,625,750	4,216,754	Maternal
3	46,XY,inv(11)(p14q23.2)dn	Deletion	7q21.3q22.1	97,043,362	101,977,945	4,934,584	Paternal
4^c	46,XY,inv(2)(q14.2q37.3)mat	Deletion	2q37.3	239,735,269	243,044,147	3,308,879	Maternal
		Duplication	2q14.1q14.2	117,072,756	121,304,548	4,231,793	Maternal
Variant of unknown clinical significance
5	46,XX,inv(2)(p12q14.1)dn	Deletion	9p24.2	3,334,203	3,513,286	179,084	Paternal

^aGenomic position in hg19 coordinates; ^bin patient 1, the 4p duplication is pathogenic; the deletion is considered benign; ^cin patient 4, the 2q37 deletion is pathogenic; the clinical significance of the duplication is unknown.

ISSN: 2040-2392