| 一例16q22脆性位点携带者的遗传学分析 |
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| 引用本文： | 邵敏杰,王云,田婵,焦利萍,刘平. 一例16q22脆性位点携带者的遗传学分析[J]. 中华医学遗传学杂志, 2021, 0(4): 380-382 |
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| 作者姓名： | 邵敏杰 王云 田婵 焦利萍 刘平 |
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| 作者单位： | 北京大学第三医院妇产科生殖医学中心 |
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| 摘 要： | 目的:细胞遗传学方法诊断1例因不孕不育来诊的16q22脆性位点携带者。方法:采集患者外周血样进行染色体核型分析及基因芯片的检测。结果:患者染色体核型为嵌合型16q22脆性位点携带者，且脆性位点表现各异，未经叶酸诱导而出现。基因芯片检测结果未见异常。结论:16q22存在脆性位点，该位点可未经叶酸诱导而产生，属于罕见型脆性...
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| 关 键 词： | 脆性位点 16q22 染色体核型分析 |
Genetic analysis of an individual with a fragile site at 16q22 |
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| Shao Minjie,Wang Yun,Tian Chan,Jiao Liping,Liu Ping. Genetic analysis of an individual with a fragile site at 16q22[J]. Chinese journal of medical genetics, 2021, 0(4): 380-382 |
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| Authors: | Shao Minjie Wang Yun Tian Chan Jiao Liping Liu Ping |
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| Affiliation: | (Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China) |
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| Abstract: | Objective To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods.Methods Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray(SNP-array)analysis.Results The patient was found to be a mosaicism for a fragile site at 16q22,which has a variable morphology and cannot be induced by folic acid treatment.No abnormality was found by SNP-array analysis.Conclusion A rare fragile site,which can be induced without folic acid treatment,has been identified at 16q22.The strategy of assisted reproduction for such individuals is yet to be explored. |
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| Keywords: | Fragile site 16q22 Chromosomal karyotyping analysis |
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