PMC6781697_01
A) Array comparative genomic hybridization analysis showing amplification of the 15q11.1-15q13.2 chromosomal region (10 Mb; 20,190,682-30,367,656; Build 37/Hg19). B) Partial G-banding: ideogram and normal chromosomes 15. C) Partial G- and C-banding: ideogram and marker chromosome 15.
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CGH analysis showed an abnormal female array profile with a gain of three copies in the 15q11.1-q13.2 region (10 Mb, 20,190,682-30,367,656; Build 37/Hg19) (Figure 1A). Cytogenetic analysis was performed on peripheral blood lymphocytes. Analysis of C- and G-banded metaphases showed that 15 chromosomes (30%) had the normal 46,XX karyotype, whereas 35 (70%) had the 47,XX,+mar karyotype (Figure 1B-C).
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