Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
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.
Titomanlio
Luigi
L
Clinical Genetics Unit, Hospital Robert Debré, University Paris VII, France.
De Brasi
Daniele
D
Romano
Alfonso
A
Genesio
Rita
R
Diano
Alvaro A
AA
Del Giudice
Ennio
E
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*