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. 2020 Jul 5;8(9):e1390. doi: 10.1002/mgg3.1390

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© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Speculation of the proband's chromosome X structure. (a) Hypothesized structure of proband's chromosome X, based on the observations of two breakpoints and a partial inversion structure. Dotted objects show uninvestigated regions. (b) Quantitative gene mapping analysis. Design of qPCR on the F8 and its neighboring loci (upper) and the results of copy number variations (lower). Gene dosage was normalized to a gDNA pooled from three normal male individuals. FUNDC2 and BRCC3 were assessed as a doubled gene dosage. (c) Speculated structure of the proband's chromosome X (NC_000023.11:g.155007148_155013478delins155028224_155147780inv). The patient F8 was split with an over 119.5 kb of intra‐chromosomal inverted/duplicated alignment