Table 1 Summary of chromosome abnormalities in short stature patients with and without other clinical features based on karyotyping and FISH analysis
From: Chromosome abnormalities in Indonesian patients with short stature
Karyotype and FISH results | Group A Short stature patients with other clinical features (no. of cases) | Group B Short stature patients without other clinical features (no. of cases) |
|---|---|---|
46,XX and/or nuc ish (DXZ1x2) | 13 | 29 |
46,XY | 5 | 3 |
Sex chromosomes | ||
nonmosaic monosomy X (45,X) | 9 | 8 |
46,XX and nuc ish (DXZ1x1)//(DXZ1x2) | 2 | 4 |
46,XY and/or nuc ish (DXZ1x1)//(DXZ1,DYZ3x1) | 1 | 1 |
mos 45,X/46,XY and nuc ish (DXZ1x1)//(DXZ1,DYZ3x1)// (DXZ1,DYZ3x2) | 0 | 1 |
mos 45,X/46,XX and nuc ish (DXZ1)//(DXZ1x2) | 0 | 1 |
46,X,i(Xq) | 1 | 1 |
mos 45,X/46,X,i(Xq) | 2 | 6 |
46,X,idic(X)(p22.2) * | 0 | 1 |
mos 45,X/46,X,idic(X)(q23) | 0 | 1 |
mos 45,X/46,X,del(Xp) | 1 | 0 |
mos 45,X/46,X,r(Y) | 1 | 0 |
mos 45,X/46,X,idic(Y)(pter) | 1 | 0 |
Autosomal chromosome | ||
mosaic aneuploidy chromosome 18** | 1 | 1 |
mos 46,XX,add(18p)/ 46,XX | 1 | 0 |
mos 45,XY,-9/46,XY,r(9) | 1 | 0 |
(p24q34) | ||
46,XY,add(11)(q24) | 1 | 0 |