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Medical Diagnosis 2025
儿童威廉姆斯综合征1例及文献复习
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Abstract:
目的：报告1例威廉姆斯综合征(Williams syndrome, WS)患者的临床表型，并对文献复习，总结患者临床特征，以期提高临床医生对本病认识。方法：采集1例威廉姆斯综合征患者的临床资料，采集其静脉血应用全外显子测序，检索中英文数据库中已报道的威廉姆斯的相关病例，总结临床特征。结果：患儿具有前额宽、双颞窄、颧骨扁平以及短鼻伴长人中、厚唇、阔嘴的典型特殊面容，心脏彩超提示患儿患有主动脉瓣上狭窄，且患儿右侧上下肢的血压偏高，这与既往研究文献的特殊临床特征相吻合。经过全外显子测序和全基因组CNV的结果比对，确认7号染色体单杂合1.45Mb片段缺失为Del (7q11.23)。
Objective: To report the clinical phenotype of one patient with Williams syndrome (WS), and to review the literature and summarize the clinical characteristics of the patient, in order to increase clinicians’ understanding of this disease. Methods: The clinical data of one patient with Williams syndrome were collected, and the venous blood was collected and whole exome sequencing was performed, and the related cases of Williams reported in Chinese and English databases were retrieved to summarize the clinical characteristics. Results: The child had a typical special facial appearance with a wide forehead, narrow bitemporal space, flat cheekbones, and a short nose with a long philtrum, thick lips, and a wide mouth. After whole exome sequencing and CNV-Seq results, the deletion of the monoheterozygous 1.45Mb fragment of chromosome 7 was confirmed to be Del (7q11.23).
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