Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

Figure 2

Postnatal molecular cytogenetic analyses. (a) Whole exome sequencing analysis using the eXome Hidden Markov Model (XHMM). XHMM analysis using WES data detected the copy number loss located within 1p36.33–p36.32, suggesting a 3 Mb deletion (black bar). x axis shows the physical position, and y axis shows the Z score of the principal component analysis that was normalized to read depth. Purple circles connected by red lines represent values of the placenta to WES. Gray dots with gray connected lines indicate the results of normalized read depth. Copy number losses (red dots) without gains (green dots) on chromosome 1p36 were detected in the placenta. (b) Chromosomal microarray (CMA) analysis using Cytoscan 750 k Array. CMA analysis results for the copy number log2 ratio of chromosome 1p region for the placenta (purple), father (pink), and mother (blue). CMA analysis demonstrated a 3 Mb heterozygous deletion within 1p36.33–p36.32 in the placenta. The fetus had arr[hg]1p36.33–p36.32 (849466_3347420)x1. There were no copy number variations in the parents detected by CMA.

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