Home|Journals Follow on Twitter| Subscribe to List

Directory for Medical Articles

Open Access


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

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

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.

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

Share this Article

Journal of Behavioral Health


ScopeMed Home
Follow ScopeMed on Twitter
Author Tools
eJPort Journal Hosting
About ScopeMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Scopemed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright © ScopeMed® Information Services.
Scopemed Buttons