| Molecular and clinical studies of Polish patients with Prader-Willi syndrome. | |
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MedLine Citation:
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PMID: 8872045 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A group of 30 patients clinically described as having the Prader-Willi Syndrome (PWS) were studied using microsatellites from 15q11-13 and methylation analysis with probe PW71B (D15S63). The patients were categorized according to clinical symptoms. 80% of all patients were informative using molecular and cytogenetic methods. Among 8 patients with an atypical PWS phenotype, 2 showed uniparental disomy, and 2 had a mosaic deletion for 15q. The last 4 atypical and 2 typical patients had neither molecular defects confirmed by microsatellite analysis nor a parent-of-origin-specific methylation pattern for PWS. Our results confirm that methylation pattern analysis provides an additional and alternative microsatellite analysis to diagnose PWS. |
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Authors:
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A Szpecht-Potocka; E Obersztyn; M Karwacki; E Bocian; J Bal; T Mazurczak |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Acta geneticae medicae et gemellologiae Volume: 45 ISSN: 0001-5660 ISO Abbreviation: Acta Genet Med Gemellol (Roma) Publication Date: 1996 |
Date Detail:
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Created Date: 1997-01-13 Completed Date: 1997-01-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370314 Medline TA: Acta Genet Med Gemellol (Roma) Country: ITALY |
Other Details:
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Languages: eng Pagination: 273-6 Citation Subset: IM |
Affiliation:
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Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Chromosomes, Human, Pair 15* Female Humans Infant Male Poland Prader-Willi Syndrome / genetics* |
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