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Molecular and Clinical Studies of Polish Patients with Prader-Willi Syndrome

Published online by Cambridge University Press:  01 August 2014

A. Szpecht-Potocka ,
E. Obersztyn ,
M. Karwacki ,
E. Bocian ,
J. Bal  and
T. Mazurczak
A. Szpecht-Potocka*
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
E. Obersztyn
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
M. Karwacki
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
E. Bocian
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
J. Bal
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
T. Mazurczak
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
*
Department of Genetics, National Research Institute of Mother and Child, Kasprzaka 17A, PI 01 211 Warsaw, Poland

Abstract

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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.

Keywords

Prader-Willi syndromeMicrosatellite analysisMethylation pattern
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 273 - 276
Copyright
Copyright © The International Society for Twin Studies 1996

References

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