Protocols
每十万名女性中,大约有25-50名女性为Turner综合征患者。Turner综合征能影响生命各个阶段的多个脏器功能,因此需要多学科的合作进行综合管理。既往的指南已经详细阐述了这部分内容,但近期有很多涉及Turner综合征患者专业领域的重要进展。因此,本指...
Turner syndrome guideline cytogenetics mosaicism Main Although clinical guidelines have addressed diagnosis of Turner syndrome,1., 2., 3., 4., 5. laboratory guidelines are lacking. This American College of Medical Genetics (ACMG) laboratory guideline provides information on appropriate pre- and postn...
ACMG STANDARDS AND GUIDELINES Laboratory guideline for Turner syndrome Daynna J. Wolff, PhD1, Daniel L. Van Dyke, PhD2, and Cynthia M. Powell, MD3; A Working Group of the ACMG Laboratory Quality Assurance Committee Disclaimer: This guideline is designed primarily as an educational resource ...
In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turne...
[2] Gravholt CH, Viuff MH, Brun S, et al. Turner syndrome: mechanisms and management[J]. Nat Rev Endocrinol, 2019, 15(10):601-614. DOI: 10.1038/s41574-019-0224-4. [3] Gravholt CH, Andersen NH, Conway GS,...
进一步应用荧光原位杂交(fluorescence in situ hybridization,FISH)进行验证[X染色体探针应用FITC直接标记的着丝粒特异探针(DXZ1)(Xp11.1-q11.1),X染色体显示绿色荧光信号](图3),综合核型、CMA、FISH结果,提示胎儿异常微小环状染色体源于X染色体,产前诊断该胎儿为环状X染色体嵌合型Turner综合征(Turner syndrome,TS)。孕妇...
Turner综合征(Turner syndrome,TS)并发马德隆畸形、复杂短指症在临床上是很少见的,再合并强直性脊柱炎(ankylosing spondylitis,AS)则更为罕见。报告1例36岁女性患者,因反复腰背、髋、膝疼痛11年,加剧1个月,以"强直性脊柱炎"收住入院,入院后因身高矮小、第二性征发育不良、肢体畸形等,行染色体核型示"46,X,i(Xq...
Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal mortality rate that is higher than in ...
19kAccesses 51Altmetric Metrics Abstract Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogon...