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Abstract
Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.
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1 National Cancer Institute, Division of Cancer Epidemiology and Genetics, Rockville, USA (GRID:grid.48336.3a) (ISNI:0000 0004 1936 8075); Frederick National Laboratory for Cancer Research, Cancer Genomics Research Laboratory, Rockville, USA (GRID:grid.418021.e) (ISNI:0000 0004 0535 8394)
2 National Cancer Institute, Division of Cancer Epidemiology and Genetics, Rockville, USA (GRID:grid.48336.3a) (ISNI:0000 0004 1936 8075)