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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1

Fig. 3

Structural rearrangement of the Xp11.22 microduplication in the proband (Family 1). WGS shows that the small duplication (Family 1) is 287 kb with precise genomic coordinates chrX:53,358,265-53,645,732 (GRCh37/hg19) spanning the entirety of the HSD17B10 and SMC1A genes, as well as part of HUWE1, and reveals that the duplication was in tandem orientation. The duplication region is surrounded by a blue box. Obviously, HUWE1 is partially duplicated, which suggests one functional copy of the gene

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BMC Medical Genomics

ISSN: 1755-8794

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