title: Molecular and clinical studies of Polish patients with Prader-Willi syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Szpecht-Potocka
authors.forename: E
authors.initials: E
authors.lastname: Obersztyn
authors.forename: M
authors.initials: M
authors.lastname: Karwacki
authors.forename: E
authors.initials: E
authors.lastname: Bocian
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011044:Poland; D011218:Prader-Willi Syndrome / Q000235:genetics*