Abstract
AbstractWe report a 3‐y‐old male infant with Prader‐Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11‐q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We unravelled an interstitial 15q11.2‐q13.1 deletion spanning about 3 Mb. Conclusion: To date only a few other PWS patients—including autopsy cases—with CNS structural anomalies have been described. Our case report adds knowledge to the issue of brain involvement in Prader‐Willi syndrome. Further MRI studies of PWS patients will be helpful to clarify a correlation between PWS and brain abnormalities.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
