期刊
GENETICS IN MEDICINE
卷 21, 期 4, 页码 877-886出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41436-018-0271-6
关键词
Turner syndrome; mosaicism; aneuploidy; trisomy
资金
- UK Biobank [871]
- European Research Council [323195: GLUCOSEGENES-FP7-IDEAS-ERC]
- Royal Society [104150/Z/14/Z]
- Diabetes UK
- Wellcome Trust [090532/Z/09/Z]
- European Regional Development Fund (ERDF)
- Diabetes Research and Wellness Foundation Fellowship
- Medical Research Council [MR/M005070/1]
- Wellcome Trust Institutional Strategic Support Award [WT097835MF, 323195]
- MRC [MR/M005070/1] Funding Source: UKRI
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/46, XX were less short, had a normal reproductive lifespan and birth rate, and no reported cardiovascular complications. The phenotype of women with 47, XXX included taller stature (5.3 cm; SD = 5.52 cm; P = 5.8 x 10(-20)) and earlier menopause age (5.12 years; SD = 5.1 years; P = 1.2 x 10(-14)). Conclusion: Our results suggest that the clinical management of women with 45, X/46, XX mosaicism should be minimal, particularly those identified incidentally.
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