[Angelman syndrome].
The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-q13. Rare cases result from paternal disomy. In 30% of patients, neither maternal by inherited deletion, nor paternal disomy, can be found. In this category of patients recurrence risk for sibs is high and molecular mechanisms are not completely known. They appear to be more complex than previously suggested. It is clear that this syndrome is a genetically heterogeneous group. The main example of genomic imprinting in human pathology, Angelman syndrome is now a model in research for understanding molecular mechanisms underlying imprinting.
Centre de génétique médicale, hôpital d'Enfants de la Timone, Aix-en-Provence, France.
A
A
Moncla
M O
MO
Livet
P
P
Malzac
M A
MA
Voelckel
M G
MG
Mattei
J F
JF
Mattei
F
F
Giraud
D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D006801:Humans
Le syndrome d'Angelman.