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Phenotype-Karyotype-Genotype Correlations in Prader-Willi and Angelman Syndromes: Preliminary Results

Published online by Cambridge University Press:  01 August 2014

A. Cecconi ,
D.J. Halley ,
A. Salvi ,
C. Balestrieri ,
E. Lapi ,
S. Lenzi ,
U. Ricci  and
M.L. Giovannucci Uzielli
A. Cecconi*
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
D.J. Halley
Affiliation:
Department Clinical Genetics, Erasmus Universiteit, Rotterdam, Holland
A. Salvi
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
C. Balestrieri
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
E. Lapi
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
S. Lenzi
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
U. Ricci
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
M.L. Giovannucci Uzielli
Affiliation:
Human Genetics Center, Department of Paediatrics, University of Florence, Italy
*
Human Genetics Center, Department of Paediatrics, University of Florence; Via Masaccio 209, 50132 Florence, Italy

Extract

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Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are well established as models of Genomic Imprinting in humans, since completely different phenotypes are generated by the absence of paternal (PWS) or maternal (AS) contribution to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. We report a preliminary study based on our experience of more than 20 years of research into the genetics of PWS and AS syndromes.

Thirty nine subjects, referred from a number of Centers and Medical Doctors have been examined to either confirm or rule out a diagnosis of PWS or AS.

Patients were evaluated through the Clinical Genetics and Dysmorphology Program at the Human Genetics Center, Dept. of Paediatrics, University of Florence.

Clinical evaluation showed that 10 of these patients fulfilled diagnostic criteria for PWS and 8 for AS.

All patients were isolated cases and the 18 nuclear families were unrelated.

We adopted the staged diagnostic approach for all our families diagnosed PWS or AS families, moleucular using cytogenetic, genetic and molecular cytogenetic techniques.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 227 - 231
Copyright
Copyright © The International Society for Twin Studies 1996

References

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