PMC6925888_01
Karyotype analysis of maternal amniotic fluid showing no significant fetal chromosomal abnormalities (46, XX)
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Fig1
The result of amniotic fluid karyotype was normal (Fig. 1).
Copy number variation of maternal amniotic fluid showing that a deletion of 7.56 Mb on chromosome 18p p11.32p11.23(seq[hg19]18 p11.32p11.23 (120000-7,680,000) x 1)
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PMC6925888_01_13039_2019_464_Fig2_HTML.jpg
Fig2
The result of CNV-Seq test was seq[hg19]18p11.32p11.23(120000-7,680,000)x 1(Fig. 2), suggesting the heterozygosis deletion of fetus. 18p11.32p11.23 was about 7.56 Mb, which contains 24 OMIM genes.
Copy number variation of the fetus's mother was normal
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Fig3
The results showed that the couple had no chromosome abnormality (Fig. 3 and Fig. 4), which means the deletion was a de novo mutation in the fetus.