PMC4271515_01
Sagittal T1 image at 5 days old demonstrating interhemispheric cysts and agenesis of corpus callosum.
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Fig1
A brain MRI at 5 days old confirmed agenesis of the corpus callosum, two expanding interhemispheric cysts, and left focal cortical dysplasia (Figure 1).
PMC4271515_02
Facial features at 20 months old demonstrating down-slanting palpebral fissures with full eyebrows.
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Fig2
He had slightly down-slanting palpebral fissures with full eyebrows, mildly increased tone on the ride side, and a wide-based, unsteady gait (Figure 2).
Chromosomal microarray analysis showing mosaic monosomy 7 using the CytoScan Dx Assay. The smooth signal plot (non-polymorphic probes) shows the mosaic loss represented as the line between copy states 1 and 2. The four tracks on the allele plots (SNP probes) also confirm the copy number probes and reflect the ~50% mosaic loss of chromosome 7.
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Fig3
When the patient was 2 years old, microarray analysis was repeated and revealed mosaicism (>20%) for monosomy 7 (Figure 3).
PMC4271515_03
Chromosomal microarray analysis showing mosaic monosomy 7 using the CytoScan Dx Assay. The smooth signal plot (non-polymorphic probes) shows the mosaic loss represented as the line between copy states 1 and 2. The four tracks on the allele plots (SNP probes) also confirm the copy number probes and reflect the ~50% mosaic loss of chromosome 7.
13039_2014_93_Fig3_HTML.jpg
PMC4271515_03_13039_2014_93_Fig3_HTML.jpg
Fig3
When the patient was 2 years old, microarray analysis was repeated and revealed mosaicism (>20%) for monosomy 7 (Figure 3).
Fluorescence in situ hybridization using the CEP 7 probe performed on the direct peripheral blood specimen of the proband showing normal (2 green signals) and abnormal (1 green signal) interphase nuclei.
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Fig4
Mosaic monosomy 7 was identified in only 37 of 714 cells (~5%) in the stimulated cultures and 21 of 100 (~21%) cells in the unstimulated cultures (Figure 4).
PMC4271515_04