背景:患有X染色体易位的个体,可变表型,和活产缺陷的高风险是科学研究的兴趣。这些特征与差异断点和各种类型的染色体异常有关。探讨X染色体易位对临床表型的影响,对X染色体易位患者的临床资料进行回顾性分析.所有患者均采用核型分析加内分泌评估。在男性患者中评估了其他精液分析和Y染色体微缺失。
结果:10例X染色体易位,包括七名女性和三名男性。在病例1中检测到婴儿子宫和无卵巢(FSH:114IU/L,LH:30.90mIU/mL,E2:<5.00pg/ml),核型被证实为46,X,案例1中的t(X;22)(q25;q11.2)。2例婴儿子宫和小卵巢均可见(FSH:34.80IU/L,LH:17.06mIU/mL,E2:15.37pg/ml,情况2;FISH:6.60IU/L,LH:1.69mIU/mL,E2:在情况3中23.70pg/ml)。核型检测为46,X,t(X;8)(q13;q11.2)在案例2和46中,X,情况3中的der(X)t(X;5)(q21;q31)。病例4、6和7发现正常的生殖激素水平和生育能力。染色体核型检测为46,X,t(X;5)(p22.3;q22)在案例4和46中,X,der(X)t(X;Y)(p22.3;q11.2)在病例6和7中。这些患者的临床表现不明显,但经历了异常染色体妊娠史。正常表型和复杂的相互易位为46,X,在有自然流产史的病例5中观察到t(X;14;4)(q24;q22;q33)。在三个男性患者中,多次精液分析证实精子缺失.Y染色体微缺失和激素分析正常。核型检测为46,Y,t(X;8)(q26;q22),46,Y,t(X;1)(q26;q23),46,Y,t(X;3)(q26;p24),分别。
结论:我们的研究提供了对X染色体易位个体的见解。由于断点和X染色体失活(XCI)模式的差异,临床表型是可变且不可预测的。我们的结果表明,医生应关注X染色体易位的特征,并在遗传咨询中提供个性化的临床评估。
BACKGROUND: Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and various types of chromosomal abnormalities. To investigate the effects of X chromosome translocation on clinical phenotype, a retrospective analysis of clinical data for patients with X chromosome translocation was conducted. Karyotype analysis plus endocrine evaluation was utilized for all the patients. Additional semen analysis and Y chromosome microdeletions were assessed in male patients.
RESULTS: X chromosome translocations were detected in ten cases, including seven females and three males. Infantile uterus and no ovaries were detected in case 1 (FSH: 114 IU/L, LH: 30.90 mIU/mL, E2: < 5.00 pg/ml), and the karyotype was confirmed as 46,X,t(X;22)(q25;q11.2) in case 1. Infantile uterus and small ovaries were both visible in two cases (FSH: 34.80 IU/L, LH: 17.06 mIU/mL, E2: 15.37 pg/ml in case 2; FISH: 6.60 IU/L, LH: 1.69 mIU/mL, E2: 23.70 pg/ml in case 3). The karyotype was detected as 46,X,t(X;8)(q13;q11.2) in case 2 and 46,X,der(X)t(X;5)(q21;q31) in case 3. Normal reproductive hormone levels and fertility abilities were found for cases 4, 6 and 7. The karyotype were detected as 46,X,t(X;5)(p22.3;q22) in case 4 and 46,X,der(X)t(X;Y)(p22.3;q11.2) in cases 6 and 7. These patients exhibited unremarkable clinical manifestations but experienced a history of abnormal chromosomal pregnancy. Normal phenotype and a complex reciprocal translocation as 46,X,t(X;14;4)(q24;q22;q33) were observed in case 5 with a history of spontaneous abortions. In the three male patients, multiple semen analyses confirmed the absence of sperm. Y chromosome microdeletion and hormonal analyses were normal. The karyotypes were detected as 46,Y,t(X;8)(q26;q22), 46,Y,t(X;1)(q26;q23), 46,Y,t(X;3)(q26;p24), respectively.
CONCLUSIONS: Our study provides insights into individuals with X chromosome translocations. The clinical phenotypes are variable and unpredictable due to differences in breakpoints and X chromosome inactivation (XCI) patterns. Our results suggest that physicians should focus on the characteristics of the X chromosome translocations and provide personalized clinical evaluations in genetic counselling.