Sun Shunchang C, Luo Fuwei W, Zhou Zhiming M, Peng Yunsheng S, Song Huiwen W
Department of Clinical Laboratory, Shenzhen Baoan Hospital, Southern Medical University, 118 Longjing Er Road, Baoan, Shenzhen, Guangdong, 518101, China,
Indian J Pediatr. 2014 Jul;81(7):722-5. doi: 10.1007/s12098-013-1134-4. Epub 2013 Jul 31.
To find the length and location of the deletions in the short arm of chromosome 5 in one case of Cri du Chat syndrome using oligo array comparative genomic hybridization.
Metaphase chromosomes were prepared from peripheral blood lymphocyte cultures using standard cytogenetic protocols. Chromosomal analysis was done in G-banded metaphases. Oligo array comparative genomic hybridization and fluorescence in situ hybridization were performed by the commercially available kits.
Oligonucleotide array comparative genomic hybridization (CGH) analysis revealed a 23.263 Mb deletion at region 5p14.2-->qter, combined with a duplication of 14.602 Mb in size in the area 12p13.1-->pter. Chromosomal aberrations were confirmed by fluorescence in situ hybridization. The male neonate with Cri du Chat syndrome had an unbalanced translocation which was inherited from his father who was a balanced carrier with a karyotype 46, XY, t (5; 12) (p14.2; p13.1).
This report shows the clinical utility of the oligonucleotide array in the detection of submicroscopic chromosomal aberrations, thus improving the molecular diagnosis of Cri du Chat syndrome.
运用寡核苷酸阵列比较基因组杂交技术，确定1例猫叫综合征患者5号染色体短臂缺失的长度及位置。
采用标准细胞遗传学方案，从外周血淋巴细胞培养物中制备中期染色体。对G显带中期染色体进行染色体分析。使用市售试剂盒进行寡核苷酸阵列比较基因组杂交和荧光原位杂交。
寡核苷酸阵列比较基因组杂交（CGH）分析显示，在5p14.2→qter区域存在23.263 Mb的缺失，同时在12p13.1→pter区域存在大小为14.602 Mb的重复。荧光原位杂交证实了染色体畸变。患有猫叫综合征的男性新生儿存在不平衡易位，该易位遗传自其父亲，其父亲为平衡携带者，核型为46, XY, t (5; 12) (p14.2; p13.1)。
本报告显示了寡核苷酸阵列在检测亚微观染色体畸变方面的临床应用价值，从而改善了猫叫综合征的分子诊断。
