Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management

Dr. Srimathy Raman; Dr. Harshala Shankar; Dr. Priyanka Shekarappa; Dr. Savitha Shirodkar; Dr. Padmalatha Venkataram

doi:10.34257/GJMREVOL21IS3PG29

Authors

Dr. Srimathy Raman
Dr. Harshala Shankar
Dr. Priyanka Shekarappa
Dr. Savitha Shirodkar
Dr. Padmalatha Venkataram

Keywords:

rett syndrome; MECP2 mutation; neuro developmental; x linked dominant, skewing; genetic counselling; exome sequencing

Abstract

Rett syndrome, a neurodevelopmental disorder is caused by MECP2 gene mutations inherited sporadically 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 discuss the case of a patient who had such a mutation and discuss her pregnancy outcomes.

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How to Cite

Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management. (2021). Global Journal of Medical Research, 21(E3), 29-30. https://doi.org/10.34257/GJMREVOL21IS3PG29

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References

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