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Influence Of The X-Chromosome On Neuroanatomy: Evidence From Turner And Klinefelter Syndromes., David S Hong, Fumiko Hoeft, Matthew J Marzelli, Jean-Francois Lepage, David Roeltgen, Judith L. Ross, Allan L Reiss

Department of Psychiatry and Human Behavior Faculty Papers

Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects …