[46,X, psu idic(X)(q21.3)[40]/45,X[3] 患儿的遗传分析]。

Ting Yin, Fang Zhang, Xinxin Tang, Minmin Zhu, Anshun Zheng, Qin Zheng, Xiaoxi Wang, Leilei Wang
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引用次数: 0

摘要

目的:探讨染色体结构异常与性腺发育不良患儿临床特征之间的相关性:探讨性腺发育不良患儿染色体结构异常与临床特征的相关性:方法:选择 2023 年 2 月 7 日因原发性闭经和偶发性腹痛入住连云港市妇幼保健院的一名 13 岁儿童作为研究对象。收集了患儿的临床资料,并采集了患儿及其父母的外周血标本。进行了 G 带染色体核型分析和拷贝数变异测序(CNV-seq)。以 "假性中心粒异染色体 X "和 "psu idic(X) "为关键词在 CNKI、万方和 PubMed 数据库中进行检索,检索期为 2002 年 1 月 1 日至 2023 年 6 月 1 日。对X染色体结构异常的相关文献进行了检索和回顾性分析:患儿身高 153 厘米,体重 45 千克。她没有明显的面部畸形。实验室检查显示,她的前列腺素和黄体生成素较高,E2较低。超声波检查显示她的卵巢较小,子宫不发育。她的核型为46,X,psu idic(X)(q21.3)[40]/mos 45,X[3],而她父母的核型均正常。CNV-seq显示,她的Xq21.32q28有一个63.27 Mb的缺失,Xp22.33q21.32有一个91.59 Mb的重复(嵌合率=74%)。共检索到 11 篇相关文献。具有类似染色体结构异常的患者的临床表型多种多样,这与 45,X 染色体的嵌合率和断裂点的位置密切相关:结论: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基础,而她的身高却没有受到影响。Xq21.32q28缺失是导致特纳综合征样表型(如不发育子宫和卵巢发育不良)的一个关键因素。
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[Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]].

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.

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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
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9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
期刊最新文献
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