Gao Yue, Wu Dong, Huo Xiaodong, Zhang Mengting, Hou Qiaofang, Wang Hongdan, Liao Shixiu
Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):724-726. doi: 10.3760/cma.j.issn.1003-9406.2019.07.017.
To explore the molecular mechanism of a girl with developmental delay and intellectual disability.
Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.
No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.
The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
探讨一名发育迟缓及智力残疾女童的分子机制。
采用常规G显带法分析患儿及其父母的染色体核型。同时采用阵列比较基因组杂交（aCGH）技术分析他们的基因组DNA，以检测染色体的重复/缺失情况。
患儿及其父母的染色体核型未见异常，而aCGH检测发现患儿17p11.2区域存在一个3.37 Mb的新发缺失。
该患儿被诊断为史密斯-马吉尼斯综合征，RAI1基因可能是致病基因。
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