Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland.
J Am Acad Child Adolesc Psychiatry. 2020 Sep;59(9):1022-1024. doi: 10.1016/j.jaac.2020.03.002. Epub 2020 Apr 12.
The best-studied examples of genetically defined developmental disorders, such as Down syndrome (trisomy 21) and velocardiofacial syndrome (del22q11), have been known since before the genomic era and were initially recognized as distinct syndromes based on their own unique constellation of dysmorphic and multisystem features. For example, Down syndrome is characterized by the co-occurrence of several dysmorphic features, including a flattened facial profile, slanted palpebral fissures, protruding tongue, and transverse palmar crease, with accompanying hypotonia, cardiac issues, and developmental delay. None of these features in isolation is specific to Down syndrome, and all features are not present in all cases, but the co-occurrence of multiple features from this set is a specific and sensitive marker for the presence of trisomy 21. To what extent might similar principles apply to the patterning of cognitive and behavioral features across different neurogenetic syndromes?
在基因组时代之前，就已经发现了一些经过充分研究的遗传性发育障碍的典型案例，如唐氏综合征（21 三体）和 22q11 缺失综合征（ velocardiofacial syndrome ），这些案例最初被认为是具有独特特征的综合征，因为它们都具有独特的畸形和多系统特征。例如，唐氏综合征的特征是多种畸形特征同时出现，包括扁平的面部轮廓、倾斜的睑裂、伸出的舌头和横向手掌折痕，同时伴有低张力、心脏问题和发育迟缓。这些特征孤立出现时都不是唐氏综合征特有的，并非所有病例都有这些特征，但这一组中多种特征同时出现，是 21 三体的特异性和敏感标志物。那么，类似的原则在多大程度上适用于不同神经发育障碍综合征的认知和行为特征模式？
