PMID: 9557895Apr 29, 1998Paper

Genetic counseling in Angelman syndrome: the challenges of multiple causes

American Journal of Medical Genetics
H J Stalker, C A Williams

Abstract

The causal heterogeneity of Angelman syndrome (AS) makes providing information regarding recurrence risk both important and challenging, and may have a dramatic impact on reproductive decision-making for the nuclear and extended family. Most cases of AS result from typical large de novo deletions of 15q11-q13, and are expected to have a low (<1%) risk of recurrence. AS due to paternal uniparental disomy (UPD), which occurs in the absence of a parental translocation, is likewise expected to have a <1% risk of recurrence. Parental transmission of a structurally or functionally unbalanced chromosome complement can lead to 15q11-q13 deletions or to UPD and will result in case-specific recurrence risks. In instances where there is no identifiable large deletion or UPD, the risk for recurrence may be as high as 50% as the result of either a maternally inherited imprinting center (IC) mutation or a ubiquitin-protein ligase (UBE3A) gene mutation. Individuals with AS who have none of the above abnormalities comprise a significant proportion of cases, and some may be at a 50% recurrence risk. Misdiagnoses, as well, can be represented in this group. In light of the many conditions which are clinically similar to AS, it is essential to add...Continue Reading

Citations

Nov 30, 2013·Indian Journal of Pediatrics·Dhanya YesodharanSheela Nampoothiri
Feb 5, 2003·Journal of Medical Genetics·J Clayton-Smith, L Laan
May 21, 2009·European Journal of Human Genetics : EJHG·Griet Van Buggenhout, Jean-Pierre Fryns
Nov 24, 1999·Clinical Genetics·A M InnesA J Dawson
Jul 17, 2010·American Journal of Medical Genetics. Part a·Sarika U PetersCarlos A Bacino
Dec 7, 2013·American Journal of Medical Genetics. Part a·Javier SánchezSalud Borrego
Nov 11, 2006·European Journal of Medical Genetics·Cristina CamprubíMiriam Guitart
Jul 10, 2003·Clinics in Laboratory Medicine·Umadevi Tantravahi, Patricia Wheeler

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