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目的:探讨1例性腺发育不良的患儿的染色体结构异常与临床表征之间的相关性。方法:选取2023年2月7日因"原发闭经，偶然腹痛"就诊于连云港市妇幼保健院的1例13岁患儿作为研究对象。收集其临床资料，采集患儿及其父母的外周血样，对其进行G显带染色体核型及基因组拷贝数测序(CNV-seq)分析。在中国知网、万方数据以及PubMed数据库中以"假双着丝粒等臂X"、"psu idic(X)"为关键词检索断裂点位于Xq的假双着丝粒等臂X染色体的相关文献并进行分析。结果:患儿身高为153 cm，体质量为45 kg，外观无明显异常。卵泡刺激素、黄体生成素均高于正常水平，雌二醇低于正常水平。超声提示卵巢发育较小，始基子宫。G显带显示患儿染色体核型为mos 46，X，psu idic(X)(q21.3)[40]/45，X[3]，其父母染色体核型均未见异常。CNV-seq检测提示患儿Xq21.32q28区存在63.27 Mb的缺失，Xp22.33q21.32区存在91.59 Mb的嵌合重复(比例为74%)。共检索到相关文献11篇，结果显示该染色体结构异常的患者临床表型多样，与45，X核型的嵌合比例、断裂点位置等有关。结论:46，X，psu idic(X)(q21.3)/45，X异常可导致患儿子宫、卵巢发育不良、性激素水平异常，而未见身材矮小。Xq21.32q28区片段缺失是导致上述Turner临床表型的关键因素。

Objective:To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia.Methods:A 13-year-old child who was admitted to Lianyungang Maternal and Child Health Care Hospital on February 7, 2023 for primary amenorrhoea and occasional abdominal pain was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected. G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. "Pseudodual centromere isochromosome X" and "psu idic(X)" were used as keywords to search the CNKI, Wanfang and PubMed databases, and the search period was set as from January 1, 2002 to June 1, 2023. Relevant literature on the structural abnormality of X chromosome was searched and analyzed retrospectively.Results:The child has a height of 153 cm and weighed 45 kg. She has no obvious facial dysmorphism. Laboratory tests showed that she had higher FSH and luteinizing hormone, and lower E2. Ultrasonography showed that she had small ovaries and rudimentary uterus. She was found to have a karyotype of 46, X, psu idic(X)(q21.3)[40]/mos 45, X[3], whilst both of her parents had a normal karyotype. CNV-seq showed that she had a 63.27 Mb deletion in Xq21.32q28 and a 91.59 Mb duplication in Xp22.33q21.32 (mosaicism rate = 74%). A total of 11 relevant literature were retrieved. Clinical phenotypes of patients with similar structural chromosomal abnormalities were diverse, which was closely related to the mosaicism rate of the 45, X karyotype and the location of the breaking point.Conclusion:46, X, psu idic(X)(q21.3)/45, X probably underlay the dysplasia of uterus and ovary and sex hormone abnormalities in this child, while her height was spared. Deletion of Xq21.32q28 is a key factor leading to Turner syndrome-like phenotype such as rudimentary uterus and ovarian dysplasia.