Patau Syndrome: Genetic and Epigenetic Aspects

DOI

10.2991/978-94-6463-062-6_32How to use a DOI?

Keywords

Patau syndrome; Genetic; Epigenetic; DNA Methylation

Abstract

Patau syndrome, also known as trisomy 13 syndrome, is a syndrome caused by a chromosomal abnormality. This rare syndrome is a lethal disease, where the life expectancy more than 1 year after birth is only less than 15%. The cause of Patau Syndrome is an abnormality on chromosome 13, where the possibilities that can occur are complete trisomy 13, translocation trisomy 13, partial trisomy 13 and mosaic trisomy 13. In addition to genetic factors, it was revealed that epigenetic factors have also played an important role in this syndrome, after it was discovered that DNA methylation occurring in a number of CpGs could be used as a potential biomarker to detect trisomy 13. The aim of this paper is to discuss the genetic and epigenetic factors involved in Patau Syndrome.

Copyright

© 2023 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Yesi Octavia
AU  - Muhammad Garry Syahrizal Hanafi
AU  - Fadli Jazaldi
AU  - Elza Ibrahim Auerkari
PY  - 2022
DA  - 2022/12/22
TI  - Patau Syndrome: Genetic and Epigenetic Aspects
BT  - Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021)
PB  - Atlantis Press
SP  - 321
EP  - 329
SN  - 2468-5747
UR  - https://doi.org/10.2991/978-94-6463-062-6_32
DO  - 10.2991/978-94-6463-062-6_32
ID  - Octavia2022
ER  -