title: Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Genetics Unit, Hospital Robert Debré, University Paris VII, France.
authors.forename: Luigi
authors.initials: L
authors.lastname: Titomanlio
authors.forename: Daniele
authors.initials: D
authors.lastname: De Brasi
authors.forename: Alfonso
authors.initials: A
authors.lastname: Romano
authors.forename: Rita
authors.initials: R
authors.lastname: Genesio
authors.forename: Alvaro A
authors.initials: AA
authors.lastname: Diano
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
mesh_terms: D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D022202:Chromosomes, Artificial, Bacterial; D002888:Chromosomes, Human, Pair 19; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000473:pathology*