Journal
ACTA PAEDIATRICA
Volume 95, Issue 7, Pages 861-863Publisher
WILEY
DOI: 10.1080/08035250500527307
Keywords
cerebellar hypoplasia; NDN; Prader-Willi syndrome; SNRPN; snoRNAs
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We 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.
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