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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

REFERENCES

1. Nicholls, RD: New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994; 54: 733–740.Google Scholar
2. Holm, VA, Cassidy, SB, Butler, MG, Hanchen, JM, Greenswag, LR, Whitman, BY, Greenberg, F: Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 1992; 91: 398–402.Google Scholar
3. Litt, M, Luty, JA: A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 1989; 44: 397–401.Google Scholar
4 Mutirangura, A, Greenberg, F, Butler, MG, Malcolm, S, Nicholls, RD, Chakravarti, A, Ledbetter, DH: Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993; 2: 143–151.Google Scholar
5. Dittrich, B, Buiting, K, Gross, S, Horsthemke, B: Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 1993; 2: 1995–1999.Google Scholar
6 Gillessen-Kaesbach, G, Gross, S, Kaya-Westerloh, S, Passarge, E, Horsthemke, B: DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995; 32: 88–92.Google Scholar