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Quantitative proteomic analysis of amniocytes reveals potentially dysregulated molecular networks in Down syndrome

8 Feb 2013

Abstract excerpt

BACKGROUND: Down syndrome (DS), caused by an extra copy of chromosome 21, affects 1 in 750 live births and is characterized by cognitive impairment and a constellation of congenital defects. Currently, little is known about the molecular pathogenesis and no direct genotype-phenotype relationship has yet been confirmed. Since DS amniocytes are expected to have a distinct biological behaviour compared to normal...

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Share to Down syndrome and intellectual disability research
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PMID: 23394617
DOI: 10.1186/1559-0275-10-2

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