Abnormalities detected in dysmorphic and mentally retarded subjects with normal or apparently balanced karyotypes
| Case No | Initial karyotype | HR-CGH analysis | Revised karyotype | Subsequent confirmation by | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| G banding | FISH | |||||||||
| 1 | 46,XY | dim(1q22q22) | 46,XY,del(1) | Yes | Not done | |||||
| (q22q22) | ||||||||||
| 2 | 46,XY | dim(2p15p15) | 46,XY.rev ish | No | Yes | |||||
| dim(2p15p15) | ||||||||||
| 3 | 46,XX | enh(9pter→qter) | 46,XX/47,XX+9 | Yes | Yes | |||||
| 4 | 46,XY | enh(10q11q11) | 46,XY.rev ish | No | Yes | |||||
| enh(10q11q11) | ||||||||||
| 5 | 46,XX | dim(7p15p15) | 46,XX,del(7) | Yes | Not done | |||||
| (p15p15) | ||||||||||
| 6 | 46,XX | dim(2q37→qter) | 46,XX,del(2) | Yes | Yes | |||||
| (q37→qter) | ||||||||||
| 7 | 46,XX | dim(3q22q24) | 46,XX,del(3) | Yes | Not done | |||||
| (q22q24) | ||||||||||
| 8 | 46,XX | dim(4q35→qter) | 46,XX.rev ish | No | Yes | |||||
| enh(10p15→pter) | dim(4q35→qter) | |||||||||
| enh(10p→15pter) | ||||||||||
| 9 | 46,XY,t(1;4)(q31; | dim(13q33q33) | 46,XY,t(1;4)(q31; | No | Yes | |||||
| q21.2)t(3;13) | q21.2)t(3;13) | |||||||||
| (p14.1;q33) | (p14.1;q33).rev ish | |||||||||
| dim(13q33q33) | ||||||||||
| 10 | 46,XX,t(1;6;5) | dim(6q14q14) | 46,XX,t(1;6;5) | No | Not done | |||||
| (p13;q14;p13) | (p13;q14;p13).rev ish | |||||||||
| dim(6q14q14) | ||||||||||
| 11 | 46,XX,t(10;16) | dim(4q12q12) | 46,XX,del(4) | Yes | Not done | |||||
| (p11;q21) | (q12q12),t(10;16) | |||||||||
| (p11;q21) | ||||||||||
| 12 | 46,XY,t(3;5) | dim(2q24q24) | 46,XY,del(2)(q24q24), | Yes/no | Not done/yes | |||||
| (p23;p13) | dim(5p13p13) | t(3;5)(p23;p13).rev ish | ||||||||
| dim(5p13p13) | ||||||||||
| 13 | 46,XY,t(1;5;12) | dim(5p14p14) | 46,XY,t(1;5;12) | No | Not done | |||||
| (q25;p15;q21) | (q25;p15;q21).rev ish | |||||||||
| dim(5p14p14) | ||||||||||
Cases 1, 2, 3, 4, 5, 6, 9, 10, and 12 were published in Kirchhoff et al 12 as cases 2, 3, 10, 4, 6, 5, 7, 8, and 9, respectively.
Rev ish: reverse in situ hybridisation. Dim: diminished fluorescence ratio intensity ≈ deletion. Enh: enhanced fluorescence ratio intensity ≈ duplication.