新发16p11.2三倍体患儿的纵向报告。
Longitudinal report of child with de novo 16p11.2 triplication.
作者信息
Wallace Arianne S, Hudac Caitlin M, Steinman Kyle J, Peterson Jessica L, DesChamps Trent D, Duyzend Michael H, Nuttle Xander, Eichler Evan E, Bernier Raphael A
机构信息
Department of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.
Department of Neurology University of Washington School of Medicine Seattle Washington 98195.
出版信息
Clin Case Rep. 2017 Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan.
16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.
16p11.2缺失和重复通常与自闭症谱系障碍相关，并与身体特征的镜像表型以及缺失的较高外显率有关。一名患有罕见的16p11.2三倍体的男性表现出与缺失携带者相似的表型，存在神经认知和适应性技能缺陷，且身体生长高于平均水平。
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