Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

Fig. 2

Breakpoint analysis reveals Alu/Alu-mediated rearrangement as the potential generating mechanism of SLC16A2 intronic deletion. A. The deletion is located in the intron 1 of the SLC16A2 gene and flanked by the AluY1 and the AluY2 repeat sequences. Sanger sequencing confirmed the breakpoints. B. High sequence similarity between the two AluY sequences implies Alu/Alu-mediated rearrangement as the responsible generating mechanism of this deletion. Breakpoints are highlighted in red

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us