Patau Syndrome - Trisomy 13

Mirna Lechpammer; Marc Del Bigio; Rebecca Folkerth

doi:10.1017/9781316671863.045

Chapter 44 - Patau Syndrome - Trisomy 13

from Genetic Syndromes and Phakomatoses

Published online by Cambridge University Press: 07 August 2021

Marc Del Bigio and

Mirna Lechpammer: Affiliation:
New York University School of Medicine
Marc Del Bigio: Affiliation:
University of Manitoba, Canada
Rebecca Folkerth: Affiliation:
New York University School of Medicine

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Summary

Patau syndrome (PS) or trisomy 13 is a chromosomal disorder caused by the presence of an extra copy of chromosome 13 in some or all cells. The syndrome was first described and reported in 1960 by a German-born American geneticist Klaus Patau [1, 2]. It is the third most common autosomal trisomy. Fetal death occurs in 15% of clinically recognized pregnancies with trisomy 13. The prevalence of PS varies from 1:12,000 to 1:29,000 newborns [1, 3]. Pregnancies with trisomy 13 are usually terminated after the diagnosis is confirmed as fetuses are commonly born with multiple congenital malformations and postnatal survival is short [1, 3]. The syndrome is slightly more common in females, with a ratio to males of 1:0.88 [4]. Older maternal age is a recognized risk factor for this pathology due to the higher frequency of nondisjunction in meiosis leading to trisomy 13 compared to younger mothers [1].

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Type: Chapter
Information: Perinatal Neuropathology , pp. 269 - 272

DOI: https://doi.org/10.1017/9781316671863.045 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

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