TABLE 2
FROM:
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
Jacqueline Schoumans, Kate Nielsen, Iben Jeppesen, Britt-Marie Anderlid, Elisabeth Blennow, Karen Brøndum-Nielsen and Magnus Nordenskjöld
BACK TO ARTICLETable 2. CGH result
| Case | Karyotype | Chromosome imbalances | Detection method | Size (Mb) | ULS labeling Quips software | Nicktranslation HR-CGH software | Nicktranslation quips software | ULS labeling HR-CGH software |
|---|---|---|---|---|---|---|---|---|
| 1 | 46,XY,der(7)t(7;10)(q35;q25.3) | Monosomy 7q | S | 13.2 | D | D | — | D |
| Trisomy 10q | 19.1 | D | D | — | D | |||
| 2 | 46,XY,der(18)t(13;18)(q33.3;p11.31) | Monosomy 18p | T | 5.8 | D | D | D | — |
| Trisomy 13q | 5.9 | D | ND | D | — | |||
| 3 | 46,XY,der(21)t(9;21)(q33.3;q22.3) | Monosomy 21q | T | 2.5 | D | ND | — | — |
| Trisomy 9q | 11.2 | D | D | — | — | |||
| 4 | 46;XY,der(12)t(12;17)(q24.33;q25.3) | Trisomy 17q | T | 1.3 | ND | ND | ND | — |
| Monosomy 12q | 2.1 | D | ND | D | — | |||
| 5 | 46,XX,der(4)t(2;4)(q36.1;q34.3) | Monosomy 4q | T | 8.7 | D | D | — | — |
| Trisomy 2q | 20.5 | D | D | — | — | |||
| 6 | 46,XX,rec(6)dup(6p)inv(6)(p23q27) | Monosomy 6q | T | 3.5 | D | ND | ND | — |
| Trisomy 6p | 14.7 | D | D | D | — | |||
| 7 | 46,XX,del(15)(q23q25.1) | deletion 15q24 | Ta | 10.3 | D | D | — | — |
| 8 | 46,XX,del(6)(p25.3  pter) | deletion 6p | T | 1.8 | D | ND | ND | — |
| 9 | 46,XY,del(22)(q11.21q11.21) | Deletion 22q11.2 | M | 2.5 | ND | ND | — | — |
| 10 | 46,XY,del(17)(p11.2p11.2)[30]/46,XY[20] | Deletion 17p11 | M | 3.6 | D | D | — | D |
| 11 | 46,XX,del(10)(q25.1;q25.3) | Deletion 10q25 | H | 8.1 | D | D | — | — |
| 12 | 46,XY,del(4)(p16.1 pter) | Deletion 4p | M | 6.9 | D | D | — | — |
| 13 | 46,XX,del(15)(q11q13) | Deletion 15q11–q13 | M |  4b
| D | D | — | — |
| 14 | 46,XX, der(9)t(9;22)(q34.2;q13.31) | Monosomy 9q | T | 4.1 | D | ND | D | ND |
| Trisomy 22q | 5.7 | ND | ND | ND | ND | |||
| 15 | 46,XX,del(1)(p36.23 pter) | Deletion 1p | T | 8 | D | D | — | — |
| 16 | 46,XX,der(13)t(5;13)(q35.2;q34) | Monosomy 13q | T | 3.9 | D | ND | D | ND |
| Trisomy 5q | 6.5 | D | D | D | D | |||
| 17 | 46,XX,der(13)t(2;13)(p25.3;q32.1) | Monosomy 13q | T | 19.6 | D | D | — | — |
| Trisomy 2p | 3.5 | ND | ND | — | — |
S=SKY; T=subtelomeric FISH; M=microdeletion FISH; H=HR-CGH; D=detected; ND=not detected, -not performed.
a Control probe was deleted.
b bData from literature.
