A Case Study of Brain Morphometry in Triplets Discordant for Down Syndrome

作者：Adeyemi Elizabeth I^*; Giedd Jay N; Lee Nancy Raitano

来源：American Journal of Medical Genetics, Part A, 2015, 167(5): 1107-1110.

DOI：10.1002/ajmg.a.36820

• down syndrome
• trisomy 21
• magnetic resonance imaging
• cortical thickness
• cortical surface area

Down syndrome, the most common genetic cause of intellectual disability, offers the opportunity to explore the associations between genetics and both neuroanatomic and neuropsychological phenotypes. This case report summarizes the findings of a neuroimaging and neuropsychology study of two adolescent females with Down syndrome and their same-sex discordant triplet siblings (one from each family; n=4). Using high-resolution magnetic resonance imaging and surface based morphometric approaches, we offer the first in vivo report of cortical surface area reductions and increases in the thickness of the cortical sheet in youth with Down syndrome relative to their typically developing same-sex triplet siblings.

• 出版日期2015-5
• 单位NIH