Skip to main content
Fig. 3 | BMC Medical Genomics

Fig. 3

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. 3

Array-CGH analysis of DNA from Case 2 showing the alteration of chromosome 20 and 21: [GRCh38] 20p13(87137_2197493) × 1, 21q22.2q22.3(39502312_46670405) × 3. 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). A Array-CGH analysis showing the deletion of chromosome 20 (chr20) from 87,137 to 2,197,493 bp (GRCh38). B Array-CGH analysis the duplication of chromosome 21 (chr21) 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 not duplicated

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us