Unbalanced abnormalities clarified or not clarified by HR-CGH analysis
| Case No | Clinical information | Initial karyotype | CGH analysis | Comments or revised karyotype | ||||
| Translocations | ||||||||
| 14 | Turner syndrome | 46,X,add(Xp) | enh(Yq11→qter) | 46,X,add(Xp).rev ish der(X)t(X;Y) | ||||
| (p22.3;q11)enh(Yq11→qter) | ||||||||
| 15 | Prenatal diagnosis | 46,XX,inv(9),add(9p) | dim(9p22→pter) | 46,XX,inv(9),add(9)(p22).rev ish der(9) | ||||
| enh(18q11.1→qter) | t(9;18)(p22;q11.1)enh(18q11.1→qter) | |||||||
| 16 | Mentally retarded male | 46,X,add(Xp) | enh(Yp10→pter) | 46,X,add(X)(p).rev ish der(X)t(X;Y) | ||||
| (p22.3;p10)enh(Yp10→pter) | ||||||||
| Duplications | ||||||||
| 17 | Morbus cordis and growth retarded | 46,XX,add(2p)de novo | enh(2p21p23) | 46,XX,add(2p).rev ish enh(2p21p23) | ||||
| 18 | Prenatal diagnosis | 46,XX,add(18q) | enh(18q11.2→qter) | 46,XX,add(18q).rev ish enh(18q11.2→qter) | ||||
| 19 | Dysmorphic with failure to thrive | 46,XY,+mar. Ish add(5)(wcp5+) | enh(5p15-pter)×2 | 46,XY,add(5p).rev ish enh(5p15→pter)×2 | ||||
| 20 | Prenatal diagnosis | 46,XX,ins(12;?)(q21;?) de novo | Normal | wcp12 paints the entire chromosome 12, | ||||
| pregnancy resulted in a healthy child | ||||||||
| Deletions | ||||||||
| 21 | Dysmorphic with malformations | 46,XX,r(13) | dim(13q22-qter) | 46,XX,r(13).rev ish dim(13p11.2q22) | ||||
| 22 | Dysmorphic and mentally retarded | 46,XX,del(11q?) | dim(11q23.2) | 46,XX,del(11q?).rev ish dim(11q23.2) | ||||
| Numerical | ||||||||
| 23 | Prenatal diagnosis | 47,XY,+mar | enh(15q12q12) | 47,XY,+mar.rev ish enh(15)(q12q12)pat, pregnancy continued | ||||
| 24 | Missed abortion, suspected trisomy 18 | 47,XY,+mar | Normal | The marker is assumed to be inactive and of no clinical significance | ||||
| 25 | Prenatal diagnosis | 47,XY,+mar | enh(14q12q12) | 47,XY,+mar.rev ish enh(14q12q12), pregnancy terminated | ||||
| 26 | Prenatal diagnosis | 46,XY/47,XY,+mar | Normal | The marker is assumed to be inactive, pregnancy resulted in a healthy child | ||||
| 27 | Prenatal diagnosis | 46,XY,+mar | Normal | The marker is assumed to be inactive | ||||
| Others | ||||||||
| 28 | Missed abortion | 46,XX,add(12p) | dim(12p13→pter) | 46,XX,add(12p). rev ish rec(12)dup(12) | ||||
| enh(12q13→qter) | inv(12)(p13q13)dim(12p12→pter)enh | |||||||
| (12q13→qter)mat | ||||||||
| 29 | Induced abortion of severely hydropic fetus | 46,XX,add(21p) | Normal | The material on 21q is assumed to be inactive and without clinical significance | ||||
| 30 | Prenatal diagnosis | 46,XY, abnormal Y? | Normal | Father had a similar Y chromosome | ||||
| Unbalanced abnormalities failed to be clarified by CGH | ||||||||
| 31 | Dysmorphic? | 45,XX,-18/46,XX,r(18) | dim(18pter→qter) | Size of r(18) could not be estimated from the CGH analysis | ||||
| 32 | Dysmorphic and delayed development | 47,XXY/48,XXY,+mar | enh(Xper→pter) | Marker was only present in 7% of the cells and could not be detected with CGH | ||||
Rev ish: reverse in situ hybridisation. Dim: diminished fluorescence ratio intensity ≈ deletion. Enh: enhanced fluorescence ratio intensity ≈ duplication.