Unbalanced X;autosome translocations are a rare occurrence with a wide variability in clinical presentation in which the X chromosome unbalance is usually mitigated by a favorable X inactivation pattern. In most cases, this compensation mechanism is incomplete, and the patients show a syndromic clinical presentation. We report the case of a family with 4 women, of 3 different generations, carrying an unbalanced X;7 translocation with a derivative X;7 chromosome and showing a skewed X inactivation pattern with a preferential activation of the normal X. None of the carriers show intellectual disability, and all of them have a very mild clinical presentation mainly characterized by gynecological/hormonal issues and autoimmune disorders. We underline the necessity of family testing for a correct genetic consultation, especially in the field of prenatal diagnosis. We indeed discuss the fact that X;autosome translocations may lead to self-immunization, as skewed X chromosome inactivation has already been proved to be related to autoimmune disorders.

中文翻译：

---

不平衡的 X；常染色体易位可能导致轻度表型并与自身免疫性疾病有关

X 不平衡；常染色体易位是一种罕见的临床表现，其中 X 染色体不平衡通常通过有利的 X 失活模式减轻。在大多数情况下，这种补偿机制是不完整的，患者表现出综合征的临床表现。我们报告了一个家庭的案例，有 4 位女性，3 代不同，携带不平衡的 X；7 易位和衍生的 X；7 染色体，并显示出倾斜的 X 失活模式，优先激活正常的 X。没有携带者表现出智力障碍，并且他们都有非常轻微的临床表现，主要以妇科/荷尔蒙问题和自身免疫性疾病为特征。我们强调进行家庭测试以进行正确的遗传咨询的必要性，尤其是在产前诊断领域。我们确实讨论了这样一个事实：X;常染色体易位可能导致自我免疫，因为倾斜的 X 染色体失活已被证明与自身免疫性疾病有关。