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Figure 2 | Molecular Cytogenetics

Figure 2

From: Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy

Figure 2

Results of array-CGH analysis. A) Array-CGH analysis shows a 1.323 Mb interstitial deletion at 16p13.3 band spanning from probe A_16_P40566850 (14,968,855 bps) to probe A_16_P03120838 (16,292,235 bps) inherited from the father. B) Array-CGH analysis shows a a triplication of 625.8Kb at 19p13.3 band spanning from probe A_16_P20946356 (5,016,071 bps) to probe A_14_P124343 (5,641,847 bps), inherited from his mother. C) Overview of the region 16p13.11 and its gene contents, according to the UCSC Genome Browser (GRCh37/hg19 assembly). The circles indicate the genes, which could be responsible for the phenotypic features of the 16p13.11 deletion patients. The deleted region was flanked by low copy repeats (LCR16s). D) Overview of the region 19p13.3 and its gene contents, according to the UCSC Genome Browser (GRCh37/hg19 assembly). The circles indicate the genes, which could be responsible for the phenotypic features of the patient with the 19p13.3 triplication.

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Molecular Cytogenetics

ISSN: 1755-8166