Unbalanced abnormalities confirmed or not confirmed by HR-CGH analysis
| Case No | Clinical information | Initial karyotye | CGH analysis | Comments | ||||
| Larger structural and numerical abnormalities confirmed by CGH | ||||||||
| 33 | Dysmorphic with malformations | 47,XX,+der(22)t(11;22) | enh (11q23→qter) | |||||
| (q23;q11.2) | ||||||||
| 34 | Turner syndrome? | 45,X/46,X,-X,+der(X) | dim(Xpter→qter) | The ratio from Xp11.4→pter was more reduced than the rest of the X chromosome | ||||
| t(X;X)(p11.4;q12) | dim(Xp11.4→pter) | |||||||
| 35 | Prenatal diagnosis | 46,XX,-4,+der(4)t(4;8) | dim(4p15.3→pter) | |||||
| (p15.3;p22)pat | enh(8p22→pter) | |||||||
| 36 | Prenatal diagnosis | 46,XY,der(6)t(5;6) | dim(5q34→qter) | |||||
| (q34;q27)mat | ||||||||
| 37 | Severely growth retarded | 46,XY,del(11) | dim(11q14.2q23.3) | |||||
| (q14.2;q23.3) | ||||||||
| 38 | Prenatal diagnosis | 46,XY,der(7)ins(13;7) | dim(7q32→qter) | |||||
| (q32;q32q34)mat | ||||||||
| 39 | Microcephaly | 46,XX/46,X,i(X)(q10) | dim(Xp10→pter) | |||||
| enh(Xq10→qter) | ||||||||
| 40 | Prenatal diagnosis | 47,XY,+mar mat | Normal | Marker assumed to be inactive | ||||
| 41 | Mental retardation | 47,XY,+mar.ish+ | Normal | Marker assumed to be inactive | ||||
| idic(15)(q11) | ||||||||
| 42 | Prenatal diagnosis | 45,X/46,X+mar.nuc | dim(Xpter→qter) | Retrospectively, 20% mosaicism of an i(Yp) was found on G banding | ||||
| ishYp(probe x2) | enh(Yp10→pter) | |||||||
| 43 | Prenatal diagnosis | 46,XY,9qh+mat | Normal | The light stained 9qh region was divided by a dark band like a G band | ||||
| 44 | Phenotypic male | 46,XX | 46,XX | |||||
| Cryptic abnormalities confirmed by CGH | ||||||||
| 45 | Prenatal diagnosis | 46,XX,-18,+der(18) | enh(11q25q25) | This cryptic translocation was incidentally detected by interphase FISH28 | ||||
| t(11;18)(q25;q23)pat | dim(18q23q23) | |||||||
| 46 | Mentally retarded | 46,XX,-11,+der(11) | dim(11q25q25) | –- | ||||
| t(11;18)(q25;q23)mat | enh(18q23q23) | |||||||
| 47 | Angelman syndrome | 46,XX.ish del(15) | dim(15q11q13) | |||||
| (q11q13) | ||||||||
| 48 | Prader-Willi syndrome | 46,XX.ish del(15) | dim(15q11q13) | |||||
| (q11q13) | ||||||||
| Cryptic abnormalities failed to be detected by CGH | ||||||||
| 49 | DiGeorge syndrome | 46,XY.ish del(22) | Normal | |||||
| (q11.2q11.2) | ||||||||
| 50 | Williams syndrome | 46,XX.ish del(7) | Normal | |||||
| (q11.23q11.23) | ||||||||
| 51 | DiGeorge syndrome | 46,XY.ish del(22) | Normal | |||||
| (q11.2q11.2) | ||||||||
Rev ish: reverse in situ hybridisation. Dim: diminished fluorescence ratio intensity ≈ deletion. Enh: enhanced fluorescence ratio intensity ≈ duplication.