Abstract：
OBJECTIVE: To carry out optical genome mapping (OGM) for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.
METHODS: A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women\'s Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.
RESULTS: Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.
CONCLUSIONS: The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.
METHODS: A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women\'s Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.
RESULTS: Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.
CONCLUSIONS: The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.
摘要：
目的：对一个17号染色体罕见的副中心反向插入的中国家系进行光学基因组作图（OGM）。
方法：选择2021年10月在杭州市妇科医院产前诊断中心确诊的高危孕妇及其家属作为研究对象。染色体G显带分析,荧光原位杂交（FISH），应用单核苷酸多态性阵列（SNP阵列）和OGM验证了家系中17号染色体的平衡结构异常。
结果：染色体核型分析和SNP阵列分析已确定胎儿中17q23q25的重复。孕妇染色体核型分析显示17号染色体结构异常,而SNP阵列未检测到异常。OGM透露，这名女子进行了一次平行反向插入，这得到了FISH的证实。她丈夫的核型正常。
结论：胎儿中17q23q25的重复源于其母亲中17号染色体的平行反向插入。OGM具有描绘平衡染色体结构异常的优势。
方法：选择2021年10月在杭州市妇科医院产前诊断中心确诊的高危孕妇及其家属作为研究对象。染色体G显带分析,荧光原位杂交（FISH），应用单核苷酸多态性阵列（SNP阵列）和OGM验证了家系中17号染色体的平衡结构异常。
结果：染色体核型分析和SNP阵列分析已确定胎儿中17q23q25的重复。孕妇染色体核型分析显示17号染色体结构异常,而SNP阵列未检测到异常。OGM透露，这名女子进行了一次平行反向插入，这得到了FISH的证实。她丈夫的核型正常。
结论：胎儿中17q23q25的重复源于其母亲中17号染色体的平行反向插入。OGM具有描绘平衡染色体结构异常的优势。
