Abbas Elham, Cox Devin M, Smith Teri, Butler Merlin G
Departments of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, United States.
Departments of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, United States; Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, United States.
J Pediatr Genet. 2016 Sep;5(3):129-40. doi: 10.1055/s-0036-1584361. Epub 2016 Jun 15.
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams-Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation.
我们报告了一名14岁患有选择性缄默症（SM）的青春期女孩，通过染色体微阵列（CMA）分析检测到其存在7q11.23微重复，并回顾了18篇已发表临床报告中的文献。我们的患者有特定恐惧症、选择性缄默症、极度焦虑、肥胖、大理石样皮肤，以及圆脸、短颈和耳朵过度折叠的外观。我们回顾了已发表的临床、认知、行为和细胞遗传学研究结果，这些结果按照7q11.23微重复所致的言语和语言发育迟缓、生长和发育、颅面、临床以及行为和认知特征进行了分组。这种微重复综合征的特征包括言语迟缓（91%）、社交焦虑（42%）、注意力缺陷多动障碍（ADHD，37%）、自闭症谱系障碍（29%）和分离焦虑（13%）。其他发现包括脑成像异常（80%）、先天性心脏和血管缺陷（54%）以及轻度智力障碍（38%）。然后我们将该表型与因同一染色体区域缺失所致的威廉姆斯-贝伦综合征（WBS）进行了比较。这两种综合征都有脑成像异常、肌张力减退、运动发育迟缓、关节松弛、轻度智力障碍、ADHD、自闭症以及视觉空间技能差的情况，但在言语和行为模式、心血管问题以及社交互动方面存在相反或不同的表现。患有WBS的人容易出现言语过多、缺乏陌生人焦虑以及主动脉瓣上狭窄，而患有7q11.23微重复的人则有言语迟缓、选择性缄默症、社交焦虑，并且容易出现主动脉扩张。
