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A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation

Published online by Cambridge University Press:  01 August 2014

S. Ramsden ,
L. Gaunt ,
A. Seres-Santamaria  and
J. Clayton-Smith
S. Ramsden*
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
L. Gaunt
Affiliation:
Department of Medical Genetics, Barcelona, Spain
A. Seres-Santamaria
Affiliation:
Department of Medical Genetics, Barcelona, Spain
J. Clayton-Smith
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
*
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom

Abstract

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A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

Keywords

Angelman syndromeUniparental disomyRobertsonian translocation
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 255 - 261
Copyright
Copyright © The International Society for Twin Studies 1996

References

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