Patau Syndrome (Trisomy 13): Difference between revisions
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== Introduction == | == Introduction == | ||
Trisomy 13, also known as Patau Syndrome, is a genetic disorder that occurs when an individual has 3 copies of chromosome 13 in their cells which leads to developmental and health abnormalities<ref>Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. American Journal of Medical Genetics Part A. 2007 Oct 1;143(19):2242-8.</ref>. It is one of the most common trisomies occurring in 1 per 5,000 births following Trisomy 21, also known as [[Down Syndrome (Trisomy 21)|Down Syndrome]], and Trisomy 18, also known as [[Edward's Syndrome (Trisomy 18)|Edward's Syndrome]]<ref>Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero‐Carbonell C, Csaky‐Szunyogh M, Draper ES, Garne E. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 European countries, 2000–2011. American journal of medical genetics Part A. 2015 Dec;167(12):3062-9.</ref>. | Trisomy 13, also known as Patau Syndrome, is a genetic disorder that occurs when an individual has 3 copies of chromosome 13 in their cells which leads to developmental and health abnormalities<ref>Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. American Journal of Medical Genetics Part A. 2007 Oct 1;143(19):2242-8.</ref>. It is one of the most common trisomies occurring in 1 per 5,000 births following Trisomy 21, also known as [[Down Syndrome (Trisomy 21)|Down Syndrome]], and Trisomy 18, also known as [[Edward's Syndrome (Trisomy 18)|Edward's Syndrome]]<ref>Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero‐Carbonell C, Csaky‐Szunyogh M, Draper ES, Garne E. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 European countries, 2000–2011. American journal of medical genetics Part A. 2015 Dec;167(12):3062-9.</ref>. | ||
== Pathophysiology == | |||
Trisomy 13 occurs due to a chromosomal abnormality during the embryonic development where either there's non-disjunction during meiosis I where one of the parental germ cells fail to separate properly resulting in an extra chromosome 13 or it can be due to a non-disjunction at the level of meiosis II where an existing germ cell with an extra chromosome 13 due to a non-disjunction at the level of meiosis I also fails to separate during meiosis II. Maternal non-disjunctions represent 91% of cases with errors during meiosis I<ref>Macias G, Riley C. Trisomy 13: changing perspectives. Neonatal Network. 2016 Jan 1;35(1):31-6.</ref>. It is also important to note that Trisomy 13 can also occur due to translocations originating from two acrocentric breaks in the juxtacentromeric region typically occurring between chromosome 13 and 14 and the expression of the phenotype will vary depending on the balance of the translocation<ref>Laudat A, Serero S, Seridi I, Burc-Struxiano L. Trisomy 13 by robertsonian translocation rob (13; 13)(q10; q10)+ 13: about one case. InAnnales de Biologie Clinique 2017 Dec 1 (Vol. 75, No. 6, pp. 695-698).</ref>. | |||
== References == | == References == | ||
Revision as of 13:22, 24 September 2023
Introduction[edit | edit source]
Trisomy 13, also known as Patau Syndrome, is a genetic disorder that occurs when an individual has 3 copies of chromosome 13 in their cells which leads to developmental and health abnormalities[1]. It is one of the most common trisomies occurring in 1 per 5,000 births following Trisomy 21, also known as Down Syndrome, and Trisomy 18, also known as Edward's Syndrome[2].
Pathophysiology[edit | edit source]
Trisomy 13 occurs due to a chromosomal abnormality during the embryonic development where either there's non-disjunction during meiosis I where one of the parental germ cells fail to separate properly resulting in an extra chromosome 13 or it can be due to a non-disjunction at the level of meiosis II where an existing germ cell with an extra chromosome 13 due to a non-disjunction at the level of meiosis I also fails to separate during meiosis II. Maternal non-disjunctions represent 91% of cases with errors during meiosis I[3]. It is also important to note that Trisomy 13 can also occur due to translocations originating from two acrocentric breaks in the juxtacentromeric region typically occurring between chromosome 13 and 14 and the expression of the phenotype will vary depending on the balance of the translocation[4].
References[edit | edit source]
- ↑ Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. American Journal of Medical Genetics Part A. 2007 Oct 1;143(19):2242-8.
- ↑ Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero‐Carbonell C, Csaky‐Szunyogh M, Draper ES, Garne E. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 European countries, 2000–2011. American journal of medical genetics Part A. 2015 Dec;167(12):3062-9.
- ↑ Macias G, Riley C. Trisomy 13: changing perspectives. Neonatal Network. 2016 Jan 1;35(1):31-6.
- ↑ Laudat A, Serero S, Seridi I, Burc-Struxiano L. Trisomy 13 by robertsonian translocation rob (13; 13)(q10; q10)+ 13: about one case. InAnnales de Biologie Clinique 2017 Dec 1 (Vol. 75, No. 6, pp. 695-698).
