Recurrence risk in the Angelman ("happy puppet") syndrome

American Journal of Medical Genetics
P J WillemsG P Smit

Abstract

We report on two sibs with Angelman "happy puppet" syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed.

References

Oct 1, 1975·Clinical Pediatrics·M Elian
Apr 1, 1973·Neuropädiatrie·J R Moore, P M Jeavons
Jun 1, 1967·Archives of Disease in Childhood·B D Bower, P M Jeavons
Oct 18, 1984·The New England Journal of Medicine·C J CurryL J Shapiro
Jan 1, 1984·Human Genetics·R F StrattonD H Ledbetter
Jun 1, 1983·The Journal of Pediatrics·M WaziriJ A Bartley
Mar 1, 1982·American Journal of Medical Genetics·B U Zabel, W A Baumann
Apr 1, 1982·American Journal of Medical Genetics·C A Williams, J L Frias
Nov 1, 1982·American Journal of Medical Genetics·H M PashayanB Seto
Dec 1, 1981·Developmental Medicine and Child Neurology·J H HershA H Reese
Jan 1, 1980·Human Genetics·Y KurokiA Ieshima

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Citations

Jan 1, 1992·Mammalian Genome : Official Journal of the International Mammalian Genome Society·M H Brilliant
Jan 1, 1992·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Y NakatsuM H Brilliant
Feb 1, 1992·Psychological Medicine·J Flint
Aug 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·M F LyonM H Brilliant
Jul 1, 1988·Journal of Medical Genetics·A Schinzel
Feb 1, 1989·Journal of Medical Genetics·M PembreyM Super
Feb 1, 1990·Journal of Medical Genetics·J G Hall
Apr 1, 1995·Journal of Intellectual Disability Research : JIDR·J A SummersL Sandler
Mar 1, 1996·Human Genetics·J BeutenP J Willems
Oct 1, 1992·Annals of Neurology·R D NichollsE S Cantú
Dec 1, 2005·Journal of Intellectual Disability Research : JIDR·K Horsler, C Oliver
Jun 1, 1997·Arquivos de neuro-psiquiatria·J M de Pina-NetoS Malcolm
Jul 1, 1992·Journal of Child Neurology·R T ZoriC A Williams
Nov 1, 1995·Journal of Child Neurology·F VianiV Briscioli
Nov 1, 1991·Clinical Pediatrics·S A Nirenberg
Mar 27, 1995·American Journal of Medical Genetics·I M BuntinxJ P Fryns
Sep 15, 1992·American Journal of Medical Genetics·J Clayton-SmithS Malcolm
Mar 1, 1990·American Journal of Medical Genetics·K ImaizumiN Niikawa
Mar 1, 1990·American Journal of Medical Genetics·C A WilliamsH Ostrer
Mar 1, 1989·American Journal of Medical Genetics·C A WilliamsE S Cantú
Sep 15, 1991·American Journal of Medical Genetics·A J KirkilionisJ L Hamerton
Jan 1, 1991·American Journal of Medical Genetics·J S FryburgV Lindgren
Nov 1, 1990·Developmental Medicine and Child Neurology·A Van LierdeF Viani
Nov 1, 1992·Clinical Genetics·V TonkA Milunsky
Jun 1, 1997·Arquivos de neuro-psiquiatria·C FridmanC P Koiffmann
Aug 1, 1995·Current Problems in Pediatrics·C A WilliamsD J Driscoll

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Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.