检验医学与临床2018，Vol.15Issue(8)：1064-1066,3.DOI:10.3969/j.issn.1672-9455.2018.08.003
45,X/47,XXX嵌合体1例并文献复习
A single case report of 45,X/47,XXX mosaicism and literature review
摘要
Abstract
Objective To improve the recognition and diagnosis level of 45,X/47,XXX mosaicism Turner syndrome(mTS).Methods The clinical manifestation of one 45,X/47,XXX mTS case was described,and the related literatures were reviewed.Results She showed no signs of Turner syndrome,such as webbed neck and cubitus valgus,and no abmormalities found in heart and lung examination.A physical examination revealed she has Tanner stage Ⅲ for breast development and Tanner stage Ⅰ pubic hair.Pelvic ultrasound showed the ute-rus was "regular-size"(73 mm×45 mm×36 mm),while the bilateral ovaries were slightly smaller(left ovary 16 mm×10 mm,right ovary 25 mm×16 mm).The laboratory examination result:luteinizing hormone(LH) 2.89 IU/L(1.00-11.40 IU/L),follicular estrogen(FS H)25.09 IU/L(1.70 -7.70 IU/L),estradiol(E2)<10.0 ng/L(22.3 -341.0 ng/L).Chromosome analysis showed thirty-two cells had 45 chromosomes with a single X chromosome(45,X),and sixty-eight cells had 47 chromosomes with three X chromosomes(47,XXX). No karyotypically normal cells were identified in the specimen.The literature review shows that 45,X/47, XXX mTS have milder phenotypes,and the outcome for any individual is unpredictable,but short stature is still a general feature and the 45,X line determined the height disregarding the ratio of mosaicism.Conclusion Short stature might be a preliminary screening that is conducive to the early diagnosis and treatment of 45, X/47,XXX mTS.关键词
特纳综合征/嵌合体/单体型/三体型Key words
turner syndrome/mosaicism/X-monosomy/triple X syndrome分类
医药卫生引用本文复制引用
何城,青鑫,蔡燕,马强,宋琪玲,陈小芬,刘青松..45,X/47,XXX嵌合体1例并文献复习[J].检验医学与临床,2018,15(8):1064-1066,3.基金项目
四川省教育厅重点项目(16ZA0233) （16ZA0233）
川北医学院博士启动基金资助项目(CBY14-QD-08). （CBY14-QD-08）
