case_images: PMC8110389_01
case_images: Coronal view of the brain. (a) T1-weighted, (b) T2-weighted (c), flair, and (d) diffusion-weighted. No abnormalities were detected.
case_images: CRIM2021-6662054.001.jpg
case_images: PMC8110389_01_CRIM2021-6662054.001.jpg
case_images: fig1
case_images: Nevertheless, both came out normal (Figure 1).
case_images: Normal male karyotype 46, XY.
case_images: CRIM2021-6662054.002.jpg
case_images: PMC8110389_01_CRIM2021-6662054.002.jpg
case_images: fig2
case_images: 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).
case_images: Abnormal methylation pattern in the SNRPN gene due to duplication of region 15q11-13.
case_images: CRIM2021-6662054.003.jpg
case_images: PMC8110389_01_CRIM2021-6662054.003.jpg
case_images: fig3
case_images: Microarray-based comparative genomic hybridization (aCGH), x3, showing the breakpoints where the duplication occurred.
case_images: CRIM2021-6662054.004.jpg
case_images: PMC8110389_01_CRIM2021-6662054.004.jpg
case_images: fig4
case_images: This specific region of duplication has never been reported in a Dup15q patient (Figure 4).
case_images: PMC8110389_02