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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Fig. 2

Array-CGH analysis of DNA from Case 1 showing the alteration of chromosome 21 (chr21): arr[GRCh38] 21q11.2q22.3(14145727_43860444) × 3,21q22.3(43927315_46670405) × 1. In the present study genomic coordinates were converted to the matching current coordinates on hg38 using the online tool LiftOver (https://genome.ucsc.edu/cgi-bin/hgLiftOver) so the figure shows the duplication of chromosome 21 from 14,145,727 to 43,860,444 bp and the deletion from 43,927,315 to 46,670,405 bp (GRCh38). The HR-DSCR (chr21 from 37,929,229 to 37,963,130) is within the duplicated regions

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BMC Medical Genomics

ISSN: 1755-8794

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