Yin Ting, Zhang Fang, Tang Xinxin, Zhu Minmin, Zheng Anshun, Zheng Qin, Wang Xiaoxi, Wang Leilei
Central Laboratory, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222062, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):977-981. doi: 10.3760/cma.j.cn511374-20230903-00111.
To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia.
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.
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 E. 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.
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.
探讨一名性腺发育异常患儿的染色体结构异常与临床特征之间的相关性。
选取一名于2023年2月7日因原发性闭经和偶尔腹痛入住连云港市妇幼保健院的13岁儿童作为研究对象。收集该患儿的临床资料，并采集患儿及其父母的外周血样本。进行G显带染色体核型分析和拷贝数变异测序（CNV-seq）。以“假双着丝粒等臂染色体X”和“psu idic(X)”为关键词检索中国知网、万方和PubMed数据库，检索时间段设定为2002年1月1日至2023年6月1日。对检索到的关于X染色体结构异常的相关文献进行回顾性分析。
该患儿身高153cm，体重45kg。面部无明显畸形。实验室检查显示其促卵泡生成素（FSH）和黄体生成素水平较高，雌二醇（E）水平较低。超声检查显示其卵巢小，子宫发育不良。其核型为46,X,psu idic(X)(q21.3)[40]/mos 45,X[3]，而其父母核型均正常。CNV-seq显示她在Xq21.32q28区域有63.27Mb的缺失，在Xp22.33q21.32区域有91.59Mb的重复（嵌合率=74%）。共检索到11篇相关文献。染色体结构异常相似的患者临床表型多样，这与45,X核型的嵌合率及断点位置密切相关。
46,X,psu idic(X)(q21.3)/45,X可能是该患儿子宫和卵巢发育不良及性激素异常的原因，但其身高未受影响。Xq21.32q28区域的缺失是导致如子宫发育不良和卵巢发育异常等特纳综合征样表型的关键因素。
