摘要
目的探讨Cantu综合征合并22q11.2重复综合征的临床表现,以强化临床对同患两种遗传病的诊断认识。方法分析1例Cantu综合征合并22q11.2重复综合征患者的临床资料及分子遗传学结果。结果男性患儿,11岁,因“胸闷气短3 d”就诊。患者有全身性多毛和特殊面容。临床检查发现患者有心脏缺陷(卵圆孔未闭、动脉导管未闭)、脑血管迂曲扩张和骨龄延迟。结合基因检测,发现患者ABCC9基因c.3605C>T杂合变异,患者被诊断为Cantu综合征。同时还发现其22q11.21存在大小约2.87 Mb拷贝数重复。结论22q11.2重复综合征具有不完全外显性,且与Cantu综合征存在部分表型重合,易造成漏诊。
Objective To investigate the clinical manifestations of Cantu syndrome complicated with 22q11.2 duplication syndrome and to raise awareness regarding the diagnosis of the co-occurrence of both genetic diseases.Methods Analyzing the clinical data and molecular genetic results of a patient with Cantu syndrome complicated with 22q11.2 duplication syndrome.Results The patient was an 11-year-old male who presented with chest tightness and shortness of breath for 3 days.He exhibited generalized hypertrichosis and distinctive facial features.Clinical examinations revealed that the patient had cardiac defects(patent foramen ovale and patent ductus arteriosus),tortuosity and dilation of cerebral blood vessels,and delayed bone age.Based on genetic testing,a heterozygous variant c.3605C>T in the ABCC9 gene,confirming a diagnosis of Cantu syndrome.Additionally,a copy number duplication of approximately 2.87 Mb at the 22q11.21 chromosomal region was detected.Conclusions The 22q11.2 duplication syndrome exhibits incomplete penetrance.Its partial phenotypic overlap with Cantu syndrome pose a significant risk of missed diagnosis.
作者
宋玥洋
施亚君
余茜
闻应时
孙淼
SONG Yueyang;SHI Yajun;YU Xi;WEN Yingshi;SUN Miao(Institute for Fetology,the First Affiliated Hospital of Soochow University,Suzhou 215031;Ultrasound Diagnosis Department,Jingjiang People′s Hospital,Jingjiang 214500;McKusick-Zhang Center for Genetic Medicine,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100005,China)
出处
《基础医学与临床》
2026年第4期561-565,共5页
Basic and Clinical Medicine
基金
国家自然科学基金重大项目(82394423)。
