Angelman syndrome Flashcards
(2 cards)
1
Q
Etiology:
A
Deletion of Maternal Gene copy in chromosome 15 with (opposite to prader willi)
-Paternal gene
methylation [Silencing ] – Genomic imprinting
2
Q
Keywords:
A
Frequent Laughing !!! ; Epileptic Seizures (>80%) ; wide spaced tooth
intellectual disability
