Wu Dong, Li Tao, Hou Qiaofang, Huo Xiaodong, Wang Xin, Wang Tao, Yang Yanli, Liu Hongli, Liao Shixiu
Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):253-256. doi: 10.3760/cma.j.issn.1003-9406.2018.02.024.
To carry out genetic analysis on a child with developmental delay and multiple malformation.
The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).
The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31.
Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.
对一名发育迟缓并伴有多种畸形的儿童进行基因分析。
采用常规染色体G显带技术分析该儿童及其父母的染色体核型。采用阵列比较基因组杂交技术（aCGH）分析他们的基因组DNA。
先证者的核型确定为46,XX,del(6)(q22),inv(6)(p21.1q21)，而其父母未检测到核型异常。aCGH检测到该儿童存在一个新发的800 kb缺失，涵盖6p21.1处的RUNX2基因，以及一个新发的11.79 Mb缺失，位于6q21-q22.31。
这两个新发缺失均具有致病性。RUNX2基因的缺失可能是导致该患者锁骨颅骨发育不全的原因，而6q21-q22.31缺失可能导致脑部畸形。
