Consequences of trisomy syndromes - 21 and beyond

Maria Krivega; Zuzana Storchova

doi:10.1016/j.tig.2022.11.004

Consequences of trisomy syndromes - 21 and beyond

Trends Genet. 2023 Mar;39(3):172-174. doi: 10.1016/j.tig.2022.11.004. Epub 2022 Dec 7.

Authors

Maria Krivega¹, Zuzana Storchova²

Affiliations

¹ Reproduction Genetics, Department of Endocrinology Gynecology and Infertility Disorders, Women Hospital, Heidelberg University, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany. Electronic address: Maria.Krivega@med.uni-heidelberg.de.
² Department of Molecular Genetics, Faculty of Biology, TU Kaiserslautern, Paul-Ehrlich-Str. 24, 67663 Kaiserslautern, Germany.

PMID: 36496311
DOI: 10.1016/j.tig.2022.11.004

Abstract

The mechanisms underlying pathologies in Down syndrome remain poorly understood. In this forum article we compare the cellular phenotypes of chromosome 21 trisomy with other trisomic cells. We argue that both effects of the extra chromosome 21 and the global consequences of chromosome gain must be considered to understand complex pathologies of Down syndrome.

Keywords: Down syndrome; aneuploidy; chromosome 21; global gene expression changes; interferon; trisomy.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Down Syndrome* / genetics
Humans
Trisomy