Luo Fu-wei, Luo Cai-qun, Xie Jian-sheng, Gen Qian, Liu Hong, Li Fang, Chen Wu-bing, Wang Li
Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):443-6. doi: 10.3760/cma.j.issn.1003-9406.2013.04.014.
To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause.
G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization.
The infant was found to have a 46, XY, der(5) (p?) karyotype. By microarray comparative genomic hybridization, a 23.263 Mb deletion was detected in 5p14.2-p15.3 region in addition to a 14.602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)× 1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)× 3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization.
The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high accuracy.
分析1例猫叫综合征婴儿的基因组拷贝数变异，探讨其潜在的遗传病因。
对患者培养的外周血样本进行G显带分析。采用微阵列比较基因组杂交技术进行拷贝数变异分析，结果用荧光原位杂交验证。
该婴儿核型为46, XY, der(5) (p?)。通过微阵列比较基因组杂交，在5p14.2 - p15.3区域检测到23.263 Mb的缺失，同时在12p31区域检测到14.602 Mb的重复。一条衍生染色体由12p31区域与5p14.2断点重新连接形成。因此，患者的核型为arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)×1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)×3 pat。荧光原位杂交验证了5p远端缺失和12p远端增加。
该患者表现出的猫叫综合征是由涉及5号染色体的不平衡易位导致5p远端缺失引起的。微阵列比较基因组杂交技术具有高分辨率、高通量和高精度的特点，是揭示基因组拷贝数变异的有力工具。
