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

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 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

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

 

References

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

Published

2021-07-15

Issue

Vol. 21 No. E3 (2021): GJMR-E Gynecology and Obstetrics: Volume 21 Issue E3

Section

Articles

License

Copyright (c) 2021 Authors and Global Journals Private Limited

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

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