Table 1 Comparision summary of clinical presentation in cases with isochromosome 18(q) and r (18)
Clinical features | Souraty et al. 2009 | Madan et al. 1981 | Bocian et al. 1993 | Present case |
|---|---|---|---|---|
Age at diagnosis | 2.5 years | NA | 18 months | 7 years |
Sex | Girl | Girl | Girl | Girl |
IUGR | + | NA | Normal | Normal |
Dysmorphism | + | NA | + | + |
Short stature | + | NA | NA | + |
Major Abnormalities | Cleft/lip palate, umbilical hernia, thoracic hemi-vertebrae, short claviculae, Ventricular Septal Defect | Midline cleft lip, hypotelorism, absent olfactory nerves, fused frontal lobes with mono ventricles | Asymmetrical face, short left leg | Asymmetry of face, pectus excavatum, scoliosis |
Microcephaly | + | + | + | + |
DD/ID | + | + | + | + |
MRI | Cortical atrophy, enlarged ventricles, thin corpus callosum | NA | Normal | Craniostenosis |
ECG findings | Ventricular Septal defect | NA | Normal | Normal |
Skin pigmentation | Normal | Normal | Hypomelanosis of Ito | Hypo/hyper pigmentation on skin |
Other cognitive and behavioral problems | Language impairment | NA | NA | Language impairment |
Karyotype | mos 46,XX,i(18q). ish i(18q)(RP11- 417H13-,RP11-151D11-,2Xba+,RP11-10G8+/+,RP11-627G18+/+,RP5-964 M9+/+)[92]/46, XX,r(18q).ish r(18)(RP11-417H13-,RP11-151D11-,2Xba+/+,RP11-10G8+/+,RP11-627G18 +/+, RP5-964 M9-)[8] | mos psu idic(18)(p11)[64]/r(18)[36] | mos 46,XX,del(18)(p11.23)[89]/46,XX,idic(18)(p11.23) [7]/46,XX,r(18)[4] | mos 46,XX,der(18)(qter➔p11.21::p11.21➔qter) [13]/46,XX,r(18)(::p11.21➔q22.2::) [12]/46,XX,del(18)(q11.2q22) [3] |