1例12号环状染色体的遗传学分析
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国家自然科学基金青年科学基金(81502344);深圳市医疗卫生三名工程(SZSM201601062)


Genetic analysis of ring chromosome 12: one case report
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    摘要:

    摘要:目的:探讨1例患有12号环状染色体患者的临床表型和遗传学特征。 方法:收集1例12号环状染色体患者的症状、体征和影像学检查等临床资料,应用染色体常规G显带技术(chromosome G banding technique)、染色体微阵列分析(chromosomal microarray analysis, CMA)、荧光原位杂交(Fluorescence in situ hybridization, FISH)和多重连接探针扩增技术(multiplex ligation-dependent probe amplification, MLPA)进行分析。 结果:本例12号环状染色体患者流产2次,其他临床体征正常;性激素6项正常;抗苗缪勒管激素0.57 ng/mL,低于参考区间;腹部B超未见异常;该患者核型为mos 46,XX,r(12)(p13q24) [96]/45,XX,-12 [3]/46,XX,dic r(12;12)(p13q24) [1];CMA结果显示12号染色体在12q24.33区域存在小片段的缺失,缺失区域为良性CNVs;FISH检查结果显示12号环状染色体长臂末端缺失;MLPA检查结果显示12号长臂末端亚端粒缺失。 结论:本例环状12号染色体临床体征正常,环状染色体的临床表现与核型嵌合比例及12q 末端缺失的多少相关,女性流产可能与r(12)的不稳定相关。

    Abstract:

    Abstract: Objective: To investigate the clinical phenotype and genetic characteristics of a patient with ring chromosome 12. Methods: The symptoms, signs and imaging data of one patient with ring chromosome 12 were collected. The genetic characteristics of ring chromosome 12 were determined by the chromosome G banding technique, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) assay. Results: The patient with ring chromosome 12 had twice spontaneous abortions, and the other clinical signs were normal. Serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), testosterone (T), progesterone (P) and prolactin (PRL) levels were normal, but serum anti-Mullerian hormone (AMH) level (0.57 ng/mL) was lower than the reference interval. There was no abnormal abdominal B-mode ultrasonography. The karyotype of the patient was mos 46, XX, r (12) (p13q24) [96] / 45, XX, and 12 [3] / 46, XX, dic r(12;12) (p13q24) [1]. The CMA results showed that there was the deletion of small fragments in the region of 12q24.33, and that the deletion region belonged to benign copy number variants (CNVs). The FISH results showed that there was deletion in the end of long arm of ring chromosome 12. The MLPA results showed that there was the deletion of subtelomere in the end of long arm of chromosome 12. Conclusion: The patient with ring chromosome 12 has normal clinical signs, and her clinical manifestations are related to the proportion of mosaic karyotype and the number of deletion in the end of long arm of chromosome 12. The abortion of the patient may be associated with the instability of ring chromosome 12.

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许晓清,李芳勇,李育敏,邹莎,熊丹,张秀明.1例12号环状染色体的遗传学分析[J].临床检验杂志,2018,(11):809-812

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  • 收稿日期:2018-08-02
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  • 在线发布日期: 2018-12-19
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