| Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. | |
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MedLine Citation:
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PMID: 16801186 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Luigi Titomanlio; Daniele De Brasi; Alfonso Romano; Rita Genesio; Alvaro A Diano; Ennio Del Giudice |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 95 ISSN: 0803-5253 ISO Abbreviation: Acta Paediatr. Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2006-06-27 Completed Date: 2006-11-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
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Languages: eng Pagination: 861-3 Citation Subset: IM |
Affiliation:
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Clinical Genetics Unit, Hospital Robert Debré, University Paris VII, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellum
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abnormalities*,
pathology Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 19* Humans Infant Magnetic Resonance Imaging Male Prader-Willi Syndrome / genetics, pathology* |
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