[1]李静,陈雪,刘晓丽,等.92例特纳综合征核型和表型的临床分析[J].中国计划生育和妇产科,2020,(9):58-62.
　LI Jing,CHEN Xue,LIU Xiaoli,et al.Clinical analysis of 92 cases of Turner syndrome with karyotype and phenotype[J].Chinese Journal of Family Planning & Gynecotokology,2020,(9):58-62.
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92例特纳综合征核型和表型的临床分析
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《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年9期
页码:
58-62
栏目:
论著与临床
出版日期:
2020-09-25

文章信息/Info

Title:
Clinical analysis of 92 cases of Turner syndrome with karyotype and phenotype
作者:
李静1; 陈雪2; 刘晓丽3; 毛宝宏1; 陈丽娜1; 吕玲4*
甘肃省妇幼保健院,1.妇幼保健科研中心；2.医学遗传中心；3.妇产科重症监护室（MICU）4.阵痛生产恢复（LDR）中心
Author(s):
LI Jing1; CHEN Xue2; LIU Xiaoli3; MAO Baohong1; CHEN Lina1; LV Ling4*
1.Department of Research Center;2.Department of Medical Genetics Center;3.Department of Maternal Intensive Care Unit;4.Department of LaborDeliveryRecovery,Gansu Provincial Maternal and Childcare Hospital, Lanzhou Gansu 730050, P.R.China
关键词:
特纳综合征; 表型; 核型; 临床表现
Keywords:
Turner syndrome;  phenotype;  karyotype;  clinical manifestations
分类号:
R 5961
摘要:
目的分析X染色体异常引起的常见遗传疾病特纳综合征（Turner syndrome,TS）患者的表型特征，对比临床表现与不同核型之间的关系。方法采用染色体G显带技术对2010年1月至2019年5月甘肃省妇幼保健院就诊的92例 TS 患者进行核型分析，将 X 单体型（45，X）患者分为A 组，其他 X 染色体异常（包括嵌合、X 染色体结构异常等核型的 TS ）患者分为B 组。比较两组患者的临床特征。结果92例患者中有45例（489 ％）被诊断为 X 单体型，其余47例被诊断为其他X染色体异常。仅11例（1196 ％）患者在儿童期（≤12岁）被诊断，而3369 %的病例（31/92）在青春期后，5435 %的病例（50/92）在成年后才被诊断（风险值OR=317,95 ％ CI:0781282，P= 009）。A组普遍身材矮小，而B组矮小率占745 ％（风险值OR=134, 95 ％ CI:113158，P<0001)。A组约578 %的患者有颈蹼，B组占362 %（OR=242, 95 ％ CI:104559，P=004)。A组所有患者均患有原发性闭经，而B组则为764 ％，差异有统计学意义（P<0001）。B 组其余患者均出现继发闭经；两组肢体异常和子宫异常的发生率相似。 结论核型变异可能影响 TS 的表型，但可能无法可靠地预测临床表现。在儿童期应对所有可疑 TS 病例进行染色体分析，以便在生命早期设计适当的管理计划。
Abstract:
ObjectiveAnalyze the phenotypic characteristics of patients with Turner syndrome (TS), a common genetic disease caused by abnormal X chromosome, and compare the relationship between clinical manifestations and different karyotypes.MethodsThe karyotype analysis of 92 TS patients in Gansu Provincial Maternal and Childcare Hospital was performed using chromosome G banding technology. The X haplotype 45 and X patients were divided into group A. Other X chromosome abnormalities (including mosaicism,abnormal X chromosome structure patients with TS) were divided into group B. Compared the clinical characteristics of the two groups of patients.Results45 of 92 patients (489 %) were diagnosed with X haplotype, and the remaining 47 patients were diagnosed with other X chromosome abnormalities. Only 11 cases (1196 %) were diagnosed in childhood (≤12 years), while 3369 % of cases (31/92) were diagnosed after puberty, and 5435 % (50/92) were diagnosed even after adulthood (risk value OR=317,95 % CI:0781282, P=009). Group A generally had short stature, while the short stature rate of group B accounted for 745 % (risk value OR=134,95 % CI:113158,P<0001). Approximately 578 % of patients in group A had neck webs, and 362 % in group B (OR=242,95 % CI:104,559,P=004). All patients in group A had primary amenorrhea, while the rate in group B was 764 %, the difference was statistically significant (P<0001). The remaining patients in group B all had secondary amenorrhea; the incidence of limb abnormalities and uterine abnormalities was almost similar in the two groups.ConclusionKaryotype variation may affect the phenotype of TS, but may not be able to reliably predict clinical manifestations. Chromosomal analysis should be performed on all suspected TS cases during childhood so that an appropriate management plan can be designed early in life.

参考文献/References:

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备注/Memo

备注/Memo:
甘肃省科技厅重点实验室专项支持项目(项目编号：18JR2JA018)
更新日期/Last Update: 2020-09-25