染色体16的短臂,尤其是区域16p13.11是许多结构变异的染色体区域,尤其是删除和复制,可以观察到。尽管该区域的缺失在临床上是明确的,重复是罕见的,到目前为止,关于其临床表现没有既定的临床共识,尤其是这种疾病的畸形观点还很不清楚。一名5岁2个月大的癫痫患者,在我们的遗传学部门对自闭症和语言迟发主诉进行了评估.在体检时,注意到单侧耳前皮肤标签和上斜的睑裂。进行微阵列分析并报告为([hg19]:16p13.11(14.897.804-16.73.375)x3)。文献综述显示只有少数关于该综合征的报道,但是一些畸形的发现似乎在不同的报告中重现,这使得可能的表征。讨论了异形发现。
The short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. Although deletions of this region are clinically well defined, duplications are rare, and so far, there is no established clinical consensus in regard with its clinical picture, and especially the dysmorphic perspective of the disease is far from being clear. A 5-year-and-2-month-old patient who presented with epilepsy, autism and late speech onset complaints was evaluated in our genetics department. On physical examination, unilateral preauricular skin tag and upslanting palpebral fissures were noted. Microarray analysis was performed and reported as ([hg19]: 16p13.11 (14.897.804-16.730.375) x3). The literature
review revealed only a few reports about the syndrome, but some dysmorphological findings appear to recur in different reports, which enables a possible characterization. Dysmorphic findings were discussed.