Shen Xueping, He Pingya, Fang Rong, Yao Juan, Li Wenwen
Huzhou Women and Children's Health Care Hospital, Huzhou, Zhejiang 313000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):714-717. doi: 10.3760/cma.j.issn.1003-9406.2017.05.021.
To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis.
The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH).
G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar. The father has a karyotype of 46,XY,t(4;18) (p15.2q11.2), while the mother showed a normal karyotype. SNP-array detected two microduplications at 18p11.32q11.2 (20.5 Mb) and 4p16.3p15.2 (24.7 Mb) in the fetus. The supernumerary marker chromosome carried by the fetus has derived from the balanced translocation carried by its father. The result was confirmed by FISH.
Based on the two microduplications, the fetus was diagnosed as Wolf-Hirschhorn syndrome in conjunction with Edward syndrome. Verification of the origin of the supernumerary marker chromosome by SNP-array has provided a basis for prenatal genetic diagnosis.
通过单核苷酸多态性微阵列（SNP阵列）和核型分析，筛查一名患有心脏异常和宫内生长迟缓胎儿的基因组拷贝数变异（CNV）。
对胎儿及其父母进行常规G带分析和SNP阵列分析。结果通过荧光原位杂交（FISH）进行确认。
G带分析显示胎儿核型为47,XX,+mar。父亲核型为46,XY,t(4;18)(p15.2q11.2)，而母亲核型正常。SNP阵列检测到胎儿在18p11.32q11.2（20.5 Mb）和4p16.3p15.2（24.7 Mb）处有两个微重复。胎儿携带的额外标记染色体源自其父亲的平衡易位。FISH证实了该结果。
基于这两个微重复，该胎儿被诊断为Wolf-Hirschhorn综合征合并爱德华综合征。通过SNP阵列验证额外标记染色体的来源为产前基因诊断提供了依据。
