PMC8110389_01
Coronal view of the brain. (a) T1-weighted, (b) T2-weighted (c), flair, and (d) diffusion-weighted. No abnormalities were detected.
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fig1
Nevertheless, both came out normal (Figure 1).
Normal male karyotype 46, XY.
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fig2
On the twelfth day, he was discharged with a pending result of genetic analysis, karyotype, and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). 12 days later postdischarge, the chromosomal analysis came out normal, showing a male karyotype without structural or numerical apparent changes (Figure 2).
Abnormal methylation pattern in the SNRPN gene due to duplication of region 15q11-13.
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fig3
Microarray-based comparative genomic hybridization (aCGH), x3, showing the breakpoints where the duplication occurred.
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fig4
This specific region of duplication has never been reported in a Dup15q patient (Figure 4).
PMC8110389_02