Phenotypes associated with female X chromosome aneuploidy in UK Biobank: an unselected, adult, population-based cohort

Women with X chromosome aneuploidy such as 45,X (Turner syndrome) or 47,XXX (Triple X syndrome) present with a range of characteristics including differences in stature, an increased risk of cardiovascular disease and premature ovarian insufficiency. Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, biased ascertainment of cases may mean that the penetrance of phenotypes is overestimated. We aimed to characterise the prevalence and phenotypic consequences of X chromosome aneuploidy in a large population of older adults. We detected 30 women with 45,X, 186 with mosaic 45,X/46,XX and 110 with 47,XXX in 245,203 women from UK Biobank, using SNP array data. The phenotypic features of women with full aneuploidy (whether 45,X or 47,XXX) were similar to those previously reported. Consistent with the recognised Turner syndrome phenotype, those with 45,X were 17.2cm shorter than controls and 53% did not go through menarche. Similarly, the phenotype of women with 47,XXX included increased height (on average 5.3cm taller than controls, P = 1 . CC-BY-NC-ND 4.0 International license not peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/177659 doi: bioRxiv preprint first posted online Aug. 18, 2017;