Table 3 Short stature patients with autosomal chromosome structural abnormalities
From: Chromosome abnormalities in Indonesian patients with short stature
Case no. | Age (yrs) | Clinical data | Karyotyping results [no. of cells] | FISH results [no. of cells] |
|---|---|---|---|---|
05 PB25 | 12 | SS | 45,XX,rob(13;14) | Nuc ish (D18Z1x2)[114]//(D18Z1x1)[31]//(D18Z1x3)[5]//(DXZ1x2)[150] |
(q10;q10) | ||||
05 PB53 | 3 | SS, microcephaly, FTT, dismorphic face | mos 46,XX,add(18p)[4]/46,XX[21] | --- |
05 PB73 | 12 | SS, no menstruation | --- | nuc ish (D18Z1x2)[88]//(D18Z1x1) [12] |
09 PB42 | 5 | SS, cubitus valgus, clinodactily | mos 45,XY,-9[9]/46,XY,r(9) | --- |
(p24q34)[31] | ||||
09 PB443 | 5 | SS, dysmorphism | 46,XY,add(11) (q24) | --- |