PMC6791227_01
G-banding analysis of cultured amniocytes at 32 weeks and 6 days of gestation. The fetal karyotype was 46,XY,22pstk+. The arrow indicates 22pstk+.
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fig1
G-banding analysis on cultured amniocytes revealed a karyotype of 46,XY,22pstk+ (Figure 1).
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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fig2
Although the causative gene mutations related to the phenotype of the neonate were not identified, a 3 Mb deletion of chromosome 1p was suspected (Figure 2(a)). CMA analysis demonstrated monoallelic deletion located from positions 849466 to 3347420 on chromosome 1p36.33-p36.32 (Chr1:849466-3347420) including 76 genes, which is known as chromosome 1p36 deletion syndrome (Figure 2(b)).
Fluorescence in-situ hybridization (FISH) analysis of cultured amniocytes. FISH showed two 1p31.3 region specific signals (blue) and one 1p36.33 region specific signal (green), indicating 1p36 deletion. The arrow indicates 1p36.33 region specific signal. The arrowhead indicates 1p31.3 region specific signal.
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fig3
Postnatal sub-telomeric FISH analysis on cultured amniocytes revealed a terminal deletion of chromosome 1p (Figure 3).