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.
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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Dr. Srimathy Raman. 2021. “. Global Journal of Medical Research – E: Gynecology & Obstetrics GJMR-E Volume 21 (GJMR Volume 21 Issue E3): .
Crossref Journal DOI 10.17406/gjmra
Print ISSN 0975-5888
e-ISSN 2249-4618
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