Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family

Angelman syndrome (AS) is a genetic and neurological disorder characterized by severe developmental delay and learning disabilities, speech impairment, ataxia, tremulousness with jerky movements of limbs and a happy, sociable disposition. This disorder affects males and females in equal numbers with a prevalence of approximately 1 in 12,000-20,000 live births. The etiology is the loss of function of the imprinted UBE3A gene in 15q11-q13. The four known mechanisms include chromosome deletions, genetic imprinting errors, mutations in the UBE3A gene, and paternal uniparental disomy (UPD) [1].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Short communication Source Type: research