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Article

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.

PloS one - 1 Jan 2014

Chaiyasap Pongsathorn, Kulawonganunchai Supasak, Srichomthong Chalurmpon, Tongsima Sissades, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of...

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PMID: 24950249
DOI: 10.1371/journal.pone.0100191
PMCID: PMC4064986

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