Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management
rett syndrome; MECP2 mutation; neuro developmental; x linked dominant, skewing; genetic counselling; exome sequencing
Rett syndrome is a neurodevelopmental disorder caused by MECP2 gene mutations inherited in a sporadic or x linked dominant fashion. It almost exclusively affects girls. Genetic testing can help in preventing recurrence by offering prenatal diagnosis in affected families. We present the case of a patient who had such a mutation and discuss about her pregnancy outcomes.
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