Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results
Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy where the fetus was affected with 22q11.2DS b...
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Main Authors: | , , , , |
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Format: | Book |
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Elsevier,
2019-01-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |