[一名继发性不孕女性16号染色体长臂22区脆性位点的基因分析]
[Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility].
作者信息
Xie Chengxiu, Gao Chonglan, Kang Han, Liu Qingsong
机构信息
Department of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610073, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):495-499. doi: 10.3760/cma.j.cn511374-20220409-00237.
OBJECTIVE
To explore the genetic basis for a Fra(16)(q22)/FRA16B fragile site in a female with secondary infertility.
METHODS
The 28-year-old patient was admitted to Chengdu Women's and Children's Central Hospital on October 5, 2021 due to secondary infertility. Peripheral blood sample was collected for G-banded karyotyping analysis, single nucleotide polymorphism array (SNP-array), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH) assays.
RESULTS
The patient was found to harbor 5 mosaic karyotypes involving chromosome 16 in a total of 126 cells, which yielded a karyotype of mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]. No obvious abnormality was found by SNP-array, QF-PCR and FISH analysis.
CONCLUSION
A female patient with FRA16B was identified by genetic testing. Above finding has enabled genetic counseling of this patient.
目的
探讨一名继发性不孕女性中Fra(16)(q22)/FRA16B脆性位点的遗传基础。
方法
该28岁患者因继发性不孕于2021年10月5日入住成都妇女儿童中心医院。采集外周血样本进行G显带核型分析、单核苷酸多态性阵列（SNP-array）、定量荧光聚合酶链反应（QF-PCR）和荧光原位杂交（FISH）检测。
结果
在总共126个细胞中发现该患者存在5种涉及16号染色体的嵌合核型，核型为mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]。SNP-array、QF-PCR和FISH分析未发现明显异常。
结论
通过基因检测鉴定出一名携带FRA16B的女性患者。上述发现为该患者提供了遗传咨询。
Zotero 插件