Patau Syndrome: Genetic and Epigenetic Aspects

Yesi Octavia; Muhammad garry syahrizal Hanafi; Fadli Jazaldi; Elza ibrahim Auerkari

doi:10.2991/978-94-6463-062-6_32

Patau Syndrome: Genetic and Epigenetic Aspects

Yesi Octavia, Muhammad garry syahrizal Hanafi, Fadli Jazaldi, Elza ibrahim Auerkari

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

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.

Original language	English
Title of host publication	Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021)
Editors	Asmoro Lelono, Muhammad Akbar Bahar, Syubanul Wathon, Kartika Senjarini, Asep Ginanjar Arip, Ramdhan Putrasetya, Beny Andika, Nadhea Ayu Sukma
Publisher	Atlantis Press International B.V
Chapter	32
Pages	321-329
ISBN (Electronic)	978-94-6463-062-6
ISBN (Print)	978-94-6463-061-9
DOIs	https://doi.org/10.2991/978-94-6463-062-6_32
Publication status	Published - 22 Dec 2022

Keywords

Patau syndrome
Genetic
Epigenetic
DNA Methylation

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.2991/978-94-6463-062-6_32

Cite this

Octavia, Y., Hanafi, M. G. S., Jazaldi, F., & Auerkari, E. I. (2022). Patau Syndrome: Genetic and Epigenetic Aspects. In A. Lelono, M. Akbar Bahar, S. Wathon, K. Senjarini, A. Ginanjar Arip, R. Putrasetya, B. Andika, & N. Ayu Sukma (Eds.), Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021) (pp. 321-329). Atlantis Press International B.V. https://doi.org/10.2991/978-94-6463-062-6_32

Octavia, Yesi ; Hanafi, Muhammad garry syahrizal ; Jazaldi, Fadli et al. / Patau Syndrome: Genetic and Epigenetic Aspects. Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021). editor / Asmoro Lelono ; Muhammad Akbar Bahar ; Syubanul Wathon ; Kartika Senjarini ; Asep Ginanjar Arip ; Ramdhan Putrasetya ; Beny Andika ; Nadhea Ayu Sukma. Atlantis Press International B.V, 2022. pp. 321-329

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title = "Patau Syndrome: Genetic and Epigenetic Aspects",

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.",

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Octavia, Y, Hanafi, MGS, Jazaldi, F & Auerkari, EI 2022, Patau Syndrome: Genetic and Epigenetic Aspects. in A Lelono, M Akbar Bahar, S Wathon, K Senjarini, A Ginanjar Arip, R Putrasetya, B Andika & N Ayu Sukma (eds), Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021). Atlantis Press International B.V, pp. 321-329. https://doi.org/10.2991/978-94-6463-062-6_32

Patau Syndrome: Genetic and Epigenetic Aspects. / Octavia, Yesi; Hanafi, Muhammad garry syahrizal; Jazaldi, Fadli et al.
Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021). ed. / Asmoro Lelono; Muhammad Akbar Bahar; Syubanul Wathon; Kartika Senjarini; Asep Ginanjar Arip; Ramdhan Putrasetya; Beny Andika; Nadhea Ayu Sukma. Atlantis Press International B.V, 2022. p. 321-329.

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

TY - GEN

T1 - Patau Syndrome: Genetic and Epigenetic Aspects

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AU - Hanafi, Muhammad garry syahrizal

AU - Jazaldi, Fadli

AU - Auerkari, Elza ibrahim

PY - 2022/12/22

Y1 - 2022/12/22

N2 - 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.

AB - 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.

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KW - Epigenetic

KW - DNA Methylation

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BT - Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021)

A2 - Lelono, Asmoro

A2 - Akbar Bahar, Muhammad

A2 - Wathon, Syubanul

A2 - Senjarini, Kartika

A2 - Ginanjar Arip, Asep

A2 - Putrasetya, Ramdhan

A2 - Andika, Beny

A2 - Ayu Sukma, Nadhea

PB - Atlantis Press International B.V

ER -

Octavia Y, Hanafi MGS, Jazaldi F , Auerkari EI. Patau Syndrome: Genetic and Epigenetic Aspects. In Lelono A, Akbar Bahar M, Wathon S, Senjarini K, Ginanjar Arip A, Putrasetya R, Andika B, Ayu Sukma N, editors, Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021). Atlantis Press International B.V. 2022. p. 321-329 doi: 10.2991/978-94-6463-062-6_32

Patau Syndrome: Genetic and Epigenetic Aspects

Abstract

Keywords

UN SDGs

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