The syndrome of ring chromosome 12

We have studied a 13 month'old girl with failure to thrive, developmental delay, and dysmorphic features. At 13 months, the weight'age was 1 month, length'age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings were: Epicanthal folds, mildly cupped, apparently low'set ears, highly arched palate, short neck with low hairline, clinodactyly, and single crease of left 5th finger. The modal chromosome number was 46. Trypsin‐G banding identified a ring chromosome 12; Karyotype was 46,XX,r(12)(p13q24).