TABLE 2.
Karyotype Results
| Study ID | Age at Diagnosis, y/mo | Gender | Karyotype | Parental Karyotype | CMA |
|---|---|---|---|---|---|
| ASD-09-001 | 2/5 | M | 46,XY,t(5;16)(p13.2;p13.2) | ND | Normal |
| ASD-09-002 | 3/0 | F | 46,XX,inv(2)(p11;2q13) | Maternal | Normal |
| ASD-09-003 | 2/5 | M | 46,XY,t(5;17)(q33;p13) | ND | Normal |
| ASD-09-004 | 2/6 | M | 46,XY,t(3;6)(q26.2;q16.2) | Paternal | Normal |
| ASD-09-005 | 11/2 | M | 46,XY,t(3;5)(q26.2;q22) | De novo | Normal |
| ASD-09-006 | 1/7 | M | 46,XX,t(6;7)(q13;q11.2) | De novo | Normal |
| ASD-09-007 | 2/11 | M | 46,XY,t(6;9)(q16.2;q13) | De novo | Normal |
| ASD-09-008 | 5/0 | M | Duplication (13)(q14.1q21.3) | ND | ND |
| ASD-09-009 | 4/0 | F | 47,XX, +mar.ish der(13) or der(21) (D13Z1/D21Z1+) [4]/46,XX [17] | ND | Normal |
| ASD-09-010 | 3 | M | 46,XY,del (6)(q16.1q21) | ND | 16.4 Mb del 6q16.1-q21 |
| ASD-09-011 | 2/6 | M | 46,XY,dup(15)(q11q13) | ND | 730 kb dup 16q22.1 |
| ASD-09-012 | 3/8 | M | 46,XY,del(10)(q26.3).ish del(10) (q telomere)(D10S2490−) | De novo | 4.1 Mb del 10q23 |
| ASD-09-013 | 2/11 | M | 47,XY, + idic(15)(q13) | ND | 11.9 Mb dup 15q11q13.3 |
| ASD-09-014 | 2/8 | F | 47,XX, + 21 | De novo | 47,XX, + 21 |
| ASD-09-015 | 5/4 | M | 47,XY, + 21 | De novo | 47,XY, + 21 |
| ASD-09-016 | 10 | M | 46,XY,?ins(6)(?p23?q13?q21) | De novo | 3.3 Mb del 18p11.31-p11.23; 313 kb del 6q16.3 |
| ASD-09-017 | 3 | M | 46,XY,inv(9)(p11q13) | Unknown | Normal |
| ASD-09-018 | 3/4 | M | 46,XY,inv(9)(p11q13) | Unknown | Normal |
| ASD-09-019 | 2/10 | M | 47,XXY | De novo | X Chromosome duplication |
M indicates male; t, translocation (involved chromosomes in parentheses); F, female; inv, inversion of chromosome region; ND, not done; de novo, not observed in blood sample from either parent; mar, marker chromosome; ish, in situ hybridization; del, deletion of chromosomal material; dup, duplication of chromosomal material; idic, isodicentric chromosome; ins, insertion of chromosome material.