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Table 2 De novo abnormalities detected by SNP array

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

Patient Initial karyotype Imbalance Chromosomal region Start a End a Size (bp) Parental origin
Patients with clinically significant abnormalities
1b 46,XY,der(4)t(4;acro p)(p16.3;acro p)dn Deletion 4p16.3 17,764 558,839 541,076 Paternal
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
4c 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
  1. 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.