[对四个携带16q22脆弱位点的个体的遗传分析]。

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-04-10 DOI:10.3760/cma.j.cn511374-20241217-00658

Xiaoxiao Huang, Rong Qiang, Yuan Liu, Xue Bai, Shuxian Li, Qiujie Jin, Qingting Bu

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引用次数: 0

摘要

目的：应用细胞遗传学方法对4例16q22脆性位点流产或不孕症患者进行分析。方法：选取2022年1月至2024年12月在西北妇幼医院就诊的4例患者作为研究对象。采集患者外周血标本，进行g带染色体核型分析，其中2例同时进行拷贝数变异（copy number variation， CNV）测序。本研究已获得本院伦理委员会批准（伦理号2020-022）。结果:患者的染色体核型形成金属氧化物半导体46,XX,联邦铁路局(16)(的时候)[26]/ 47岁的XX,德尔(16)(的时候),+ chrb(16)(的时候)[4]/ 46,XX,德尔(16)(的时候)[3]/ 46,XX [91], mos 46, XY,联邦铁路局(16)(的时候)[21]/ 46,XY,德尔(16)(的时候)[3]/ 46,XY [76], mos 46, XX,联邦铁路局(16)(的时候)[21]/ 46,XX,德尔(16)(的时候)[4]/ 46,XX[75]和mos 46, XX,联邦铁路局(16)(的时候)[16]/ 46,XX,德尔(16)(的时候)[7]/ 47岁的XX,德尔(16)(的时候),+ chrb(16)(的时候)[6]/ 47岁的XX,联邦铁路局(16)(的时候),+ chrb(16)(的时候)[3]/ 46,XX[68]。患者2和4的CNV测序显示16号染色体没有缺失或重复。结论：16q22脆性位点的鉴定为这些患者的遗传咨询提供了便利。

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[Genetic analysis of four individuals harboring a 16q22 fragile site].

Objective: To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.

Methods: Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).

Results: The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.

Conclusion: Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

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.