百万退伍军人计划中成年女性的额外 X 染色体:从更良性的角度看待 X 三体综合征。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger
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引用次数: 0

摘要

尽管每 1000 名女性中就有 1 人患有 X 三体综合征(47,XXX),但人们对这种疾病知之甚少,尤其是在未确诊的老年人中。在这项研究中,我们旨在确定参加 "百万退伍军人计划"(Million Veterans Program,MVP;平均年龄为 50.2 ± 13.6 岁)的女性中 47,XXX 的患病率,并比较 47,XXX 女性和 46,XX 匹配对照组女性的总体健康状况。我们发现 61 名女性有额外的 X 染色体,相当于每 10 万名女性中有 103 人患病;其中 27.9% 已被临床诊断。患有 47,XXX 的女性身材较高(+6.1 厘米,p
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.

Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed. In this study, we aimed to determine the prevalence of 47,XXX among females enrolled in the Million Veterans Program (MVP; mean age 50.2 ± 13.6 years), and compare broad health outcomes between females with 47,XXX and 46,XX matched controls. We identified 61 females with an additional X chromosome, corresponding to a prevalence of 103 per 100,000 females; 27.9% had been clinically diagnosed. Females with 47,XXX had taller stature (+6.1 cm, p < 0.001), greater rate of outpatient encounters (p = 0.026), higher odds of kidney disease (odds ratio [OR] = 12.3; 95% confidence interval [CI] 2.9-51.8), glaucoma (OR = 5.1; 95% CI 1.5-13.9), and congestive heart failure (OR = 5.6; 95% CI 1.4-24.2), and were more likely to be unemployed (p = 0.008) with lower annual income (p = 0.021) when compared with 46,XX controls of the same age and genetic ancestry. However, there were no differences in the rates of other encounter types, Charlson Comorbidity Index, all other medical and psychological diagnoses, military service history or quality of life metrics. In conclusion, in this aging and predominately undiagnosed sample, 47,XXX conferred few differences when compared with matched controls, offering a more reassuring perspective to the trisomy X literature.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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