Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management
DOI:
https://doi.org/10.34257/GJMREVOL21IS3PG29Keywords:
rett syndrome; MECP2 mutation; neuro developmental; x linked dominant, skewing; genetic counselling; exome sequencing
Abstract
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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How to Cite
Dr. Srimathy Raman, Dr. Harshala Shankar, Dr. Priyanka Shekarappa, Dr. Savitha Shirodkar, & Dr. Padmalatha Venkataram. (2021). Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management. Global Journal of Medical Research, 21(E3), 29–30. https://doi.org/10.34257/GJMREVOL21IS3PG29
Published
2021-07-15
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