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).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome