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Rare autosomal trisomies: Important and not so rare

29 Jun 2018

Abstract excerpt

OBJECTIVE: Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. METHODS: A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. RESULTS: There were 28 RATs identified in 23 388 samples (one in 835), the most common being...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
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PMID: 29956348
DOI: 10.1002/pd.5325

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