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. 2024 Jan 18;12(1):e2356. doi: 10.1002/mgg3.2356

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© 2024 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-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Breakpoint sequencing and FISH probing confirmed cryptic translocation of chromosomes 1 and 19. (a): Conventional karyotyping of the male's peripheral blood. (b). Breakpoint sequencing confirming a cryptic translocation of chromosomes 1 and 19 (indicated by arrows). (c): Limited FISH probing of the chromosome 1 subtelomeres confirmed the translocation. (d): Breakpoint sequencing confirmed reciprocal translocation of chromosomes 6 and 8 (red arrows). (e): Breakpoint sequencing confirmed reciprocal translocation of chromosomes 1 and 6 (red arrows). (f): Breakpoint sequencing confirmed the reciprocal translocation of chromosomes 6 and 11 (red arrows).