Publication:

Ring chromosome 15 presenting as short stature, intellectual disability and café-au-lait spots

Ring Chromosome 15 results from loss of genetic material from both ends of chromosome 15 and joining of the ends to form ring. Only 50 cases are reported in literature with none from India. We report a case of 17 years old female approached us for short stature and low intelligence. On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots. Timely recognition and hereditary tendency counselling is required.