DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20163825

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

Sandip G. Gediya, Lakhan Poswal, Anuradha Sanadhya, Suresh Goyal

Abstract


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.


Keywords


Café-au-lait spots, Low intelligence, Ring chromosome 15, Short stature

Full Text:

PDF

References


Jacobsen P. A ring chromosome in the 13-15 groups associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 1966;55:188-91.

Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, et al. Ring chromosome 15: characterization by array CGH. Hum Genet. 2006;118:611-7.

Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3rd. Two patients with ring chromosome 15 syndrome. Am J Med Genet. 1988;29:149-54.

Bacino CA, Lee B. Abnormalities of chromosome structure. In: Robert M. Kliegman, Bonita F. Stanton, Joseph W. St Geme, Nina F. Schor, editors. Nelson textbook of paediatrics, 20th edition. Philadelphia: Saunders, Elsevier. 2016:620.

Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet. 2004;130A:340-4.

Chromosome 15 Ring. Nord. http://rarediseases.org/ rare-diseases/ chromosome-15-ring/.