作者: Ajay Nadig , Paul K. Reardon , Jakob Seidlitz , Cassidy L. McDermott , Jonathan D. Blumenthal
DOI: 10.1101/346767
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摘要: Sex chromosome aneuploidy (SCA) enhances risk for several psychiatric disorders associated with the limbic system, including mood and autism spectrum disorders. These patients provide a powerful genetics-first model understanding biological basis of psychopathology. Additionally, these are frequently sex-biased in prevalence, further suggesting an etiological role sex chromosomes. Here, to clarify how anatomy varies across complement, we characterize amygdala hippocampus structure uniquely large sample carrying supernumerary chromosomes (n = 132) typically developing controls (n=166). After correction sex-differences brain size, karyotypically normal males (XY) females (XX) did not differ volume or shape either studied. In contrast, all SCAs were lowered relative gonadally-matched controls. This effect was robust three different methods total correction, allometric analysis that derived normative scaling rules structures separate, population 79). Hippocampal insensitive SCA after volume. However, surface based revealed SCA, regardless specific karyotype, consistently spatially pattern change both hippocampus. particular, accompanied by contraction around basomedial nucleus area within hippocampal cuts subfields. results demonstrate power as understand genetic insults precipitate changes systems relevant disease.