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Revision as of 12:29, 18 April 2014

Trisomy 21 Genomw-wide Effects

"A comparison of identical human twins, only one of whom has Down's syndrome, reveals a genome-wide flattening of gene-expression levels in the affected individual. These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes."

(More? Trisomy 21 | Trisomy 18 | Prenatal Diagnosis)

Reference: Nature Published online 16 April 2014

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RIKEN Panel Finds Misconduct in Reprogrammed Stem Cell Papers press release April 1, 2014 | Science April 2014

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-| colspan=2|<span style="font-size:150%">'''News - DNA sequencing versus standard prenatal aneuploidy screening'''</span>
+| colspan=2|<span style="font-size:150%">'''Trisomy 21 Genomw-wide Effects'''</span>
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 [[File:Chromosome- trisomy.jpg|250px|left]]
-: "In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. ...In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.)."
+: "A comparison of identical human twins, only one of whom has Down's syndrome, reveals a genome-wide flattening of gene-expression levels in the affected individual. These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes."
 (More? [[Trisomy 21]] |  [[Trisomy 18]] | [[Prenatal Diagnosis]])
-Reference: <pubmed>24571752</pubmed>| [http://www.nejm.org/doi/full/10.1056/NEJMoa1311037 N Engl J Med.]
+Reference: [http://www.nature.com/nature/journal/v508/n7496/full/nature13200.html Nature Published online 16 April 2014]
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