作者
Marcus A Tuke, Katherine S Ruth, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Samuel E Jones, Hanieh Yaghootkar, Claire LS Turner, Mollie E Donohoe, Antonia M Brooke, Morag N Collinson, Rachel M Freathy, Michael N Weedon, Timothy M Frayling, Anna Murray
发表日期
2019/4/1
期刊
Genetics in Medicine
卷号
21
期号
4
页码范围
877-886
出版商
Elsevier
简介
Purpose
Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated.
Methods
We characterized the prevalence and phenotypic consequences of X chromosome aneuploidy in a population of 244,848 women over 40 years of age from UK Biobank, using single-nucleotide polymorphism (SNP) array data.
Results
We detected 30 women with 45,X; 186 with mosaic 45,X/46,XX; and 110 with 47,XXX. The prevalence of nonmosaic 45,X (12/100,000) and 47,XXX (45/100,000) was lower than expected, but was higher for mosaic 45,X/46,XX (76/100,000). The characteristics of women with 45,X were consistent with the characteristics of a clinically recognized Turner syndrome phenotype, including short stature and primary amenorrhea. In contrast, women with mosaic 45,X …
学术搜索中的文章
MA Tuke, KS Ruth, AR Wood, RN Beaumont, J Tyrrell… - Genetics in Medicine, 2019
MA Tuke, KS Ruth, AR Wood, RN Beaumont, J Tyrrell… - bioRxiv, 2017