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

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

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 produc...

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Bibliographic Details
Main Authors: Pongsathorn Chaiyasap, Supasak Kulawonganunchai, Chalurmpon Srichomthong, Sissades Tongsima, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4064986?pdf=render

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http://europepmc.org/articles/PMC4064986?pdf=render

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