Wu Jianzhu, Xie Yingjun, Lin Shaobin, Chen Baojiang, Chen Jiansheng, Zhang Zhiqiang, Ji Yuanjun
Fetal Medicine Center, Department of Gynaecology and Obstetrics, The First Affiliated Hospital, Sun Yatsen University, Guangzhou, Guangdong 510080, P. R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):69-72. doi: 10.3760/cma.j.issn.1003-9406.2015.01.015.
To analyze a fetus with heart defects and to assess the recurrence risk for her family.
Single nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.
SNP-Array has detected a 14.5 Mb duplication at 9p and a 14.7 Mb deletion at 11q. Karyotype analysis indicated that the fetus' mother has a karyotype of 46, XX, t(9;11) (p23;q24). Therefore, the fetus has inherited a derivative chromosome 11 derived from the maternal translocation, and her karyotype was 46, XX, der(11) t(9;11) (p23;q24) mat.
SNP-Array combined with high resolution GTG banding has confirmed that the fetus has a derivative chromosome 11 derived from her mother's balanced translocation, resulting in partial 9p trisomy and partial 11q monosomy. This couple therefore have a high recurrence risk. SNP-Array is capable of detecting small chromosomal imbalance in abnormal fetuses and can pinpoint the breakpoints. It therefore has the advantage for the detection of unbalanced translocation which is difficult to detect with GTG banding, which is important for assessment the recurrence risk for cryptic balanced translocation carriers.
分析一名患有心脏缺陷的胎儿，并评估其家庭的复发风险。
使用Affymetrix全基因组人类SNP CytoHD芯片进行基于单核苷酸多态性的阵列（SNP-Array）分析，以分析胎儿及其父母。同时也进行了核型分析。
SNP-Array检测到9号染色体短臂有14.5 Mb的重复和11号染色体长臂有14.7 Mb的缺失。核型分析表明胎儿的母亲核型为46, XX, t(9;11) (p23;q24)。因此，胎儿继承了源自母亲易位的衍生11号染色体，其核型为46, XX, der(11) t(9;11) (p23;q24) mat。
SNP-Array结合高分辨率GTG显带证实胎儿有一条源自其母亲平衡易位的衍生11号染色体，导致部分9号染色体短臂三体和部分11号染色体长臂单体。因此，这对夫妇有很高的复发风险。SNP-Array能够检测异常胎儿中的小染色体不平衡并能精确断点。因此，它在检测用GTG显带难以检测的不平衡易位方面具有优势，这对于评估隐匿性平衡易位携带者的复发风险很重要。
