[Angelman syndrome. Early diagnosis].
We report two patients who were less than two years old that were diagnosed as having Angelman syndrome. Cytogenetic confirmation of the disease was performed. We emphasize clinical and electroencephalographic features in infants that allow an early diagnosis of this syndrome and allow for prompt genetic counseling.
Campos Tristán
C
C
Servicio de Análisis Clínicos, Hospital Niño Jesús, Madrid.
Gutiérrez Solana
L G
LG
Martín Casillas
F
F
Ruiz-Falcó Rojas
M L
ML
López-Terradas
J M
JM
Vázquez-Cano
J
J
D000367:Age Factors; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype
Síndrome de Angelman. Diagnóstico precoz.