由于SMC3基因出现新的重复导致的罕见常染色体显性家族性科妮莉亚·德朗热综合征。
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
作者信息
Infante Elena, Alkorta-Aranburu Gorka, El-Gharbawy Areeg
机构信息
Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.
Department of Human Genetics The University of Chicago Chicago Illinois.
出版信息
Clin Case Rep. 2017 Jun 28;5(8):1277-1283. doi: 10.1002/ccr3.1010. eCollection 2017 Aug.
Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.
科妮莉亚·德朗热综合征（CdLS）患者的临床特征各不相同。存在伴有染色体3结构维持蛋白（SMC3）突变的较轻形式。遗传性较轻形式的CdLS并不常见，如果基因检测仅限于类Nipped-B蛋白（NIPBL）和SMC1A，则可能会漏诊。如果有学习障碍和/或畸形特征的病史，应进行亲代研究。
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