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

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

Dr. Srimathy Raman

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Dr. Harshala Shankar

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Dr. Priyanka Shekarappa

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Dr. Savitha Shirodkar

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Dr. Padmalatha Venkataram

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Rangadore Memorial Hospital, Basavangudi

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

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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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4 Cites in Article

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B Hagberg (1985). Rett's Syndrome: Prevalence and Impact on Progressive Severe Mental Retardation in Girls.
Ruthie Amir,Ignatia Van Den Veyver,Mimi Wan,Charles Tran,Uta Francke,Huda Zoghbi (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
J Armstrong,E Aibar,M Pineda (2006). Prenatal Diagnosis in Rett Syndrome.
P Huppke,E Maier,A Warnke,C Brendel,F Laccone,J Gärtner (2002). Very mild cases of Rett syndrome with skewed X inactivation: Figure 1.

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Funding

No external funding was declared for this work.

Conflict of Interest

The authors declare no conflict of interest.

Ethical Approval

No ethics committee approval was required for this article type.

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Not applicable for this article.

How to Cite This Article

Dr. Srimathy Raman. 2021. \u201cPregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management\u201d. Global Journal of Medical Research - E: Gynecology & Obstetrics GJMR-E Volume 21 (GJMR Volume 21 Issue E3).

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GJMR Volume 21 Issue E3

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Journal Specifications

Crossref Journal DOI 10.17406/gjmra

Print ISSN 0975-5888

e-ISSN 2249-4618

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GJMR-E Classification NLMC Code: WQ 240

Submission ReceivedJune 5, 2021
Peer Review Double Blind
Handling Editor
Accepted July 3, 2021
Published July 15, 2021

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v1.2

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July 22, 2021

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