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
|