High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues

Objective: We present high-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the...

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Main Authors: Chih-Ping Chen (Author), Fang-Tzu Wu (Author), Yen-Ting Pan (Author), Chen-Chi Lee (Author), Chen-Wen Pan (Author), Wayseen Wang (Author)
Format: Book
Published: Elsevier, 2023-09-01T00:00:00Z.
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