Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility
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目的 探讨1例继发不孕女性Fra(16)(q22)(FRA16B)脆性位点的遗传学机制。 方法 选取2021年10月5日因"继发不孕"就诊于成都市妇女儿童中心医院的1例28岁的携带FRA16B女性患者作为研究对象，采集其外周血样进行染色体G显带核型分析、单核苷酸多态性微阵列检测(SNP-array)、QF-PCR以及荧光原位杂交(FISH)检测。 结果 患者共发现5种染色体核型，具体为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]，但其SNP-array、QF-PCR和FISH检测结果均未见明显异常。 结论 通过遗传学手段发现了1例FRA16B女性患者。上述发现有助于其后续怀孕时的遗传咨询。 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.
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.
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