Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
نویسندگان
چکیده
منابع مشابه
Human subtelomeric copy number variations.
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...
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499 developing world, might help to encourage companies to spend resources on breakthrough innovation, rather than on minor modifications and lawyer fees. But whatever its implications for innovation, this much is clear: poor people around the world need better access to affordable drugs, and this decision will help to provide it. Disclosure forms provided by the author are available with the f...
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Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incid...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2020
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3211