a 19 years old girl with gonadal dysgenesis and short stature had one giant chromosome formed by two x-chromosomes attached by their short arms 46 , x , i dic ( x ) ( p223 : :p223 ) a 45 , x cell line was present in 40 % of cultured lymphocytes but only in 2 % of fibroblasts cultured from the right gonad and absent in fibroblasts from the left gonad and skin .
C0018051
gonadal dysgenesis
C0018067
gonad