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Article

Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.

Human molecular genetics - 15 Jan 2020

Albizua Igor, Chopra Pankaj, Sherman Stephanie L, Gambello Michael J, Warren Stephen T

Abstract excerpt

Trisomy 18, sometimes called Edwards syndrome, occurs in about 1 in 6000 live births and causes multiple birth defects in affected infants. The extra copy of chromosome 18 causes the altered expression of many genes and leads to severe skeletal, cardiovascular and neurological systems malformations as well as other medical problems. Due to the low rate of survival and the massive genetic imbalance, little...

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PMID: 31813999
DOI: 10.1093/hmg/ddz279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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