Sex chromosome aneuploidies are a common group of disorders that are characterised by
an abnormal number of X or Y chromosomes. However, many individuals with these …

Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-
linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism …

Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …

The X chromosome has played a critical role in the development of sexually selected
characteristics for over 300 million years, and during that time it has accumulated a …

Turner syndrome (TS) is a genetic disorder, affecting 1/2500 to 1/3000 live female births,
induced by partial or total deletion of one X chromosome. The neurocognitive profile of girls …

There is increasing evidence that genomic imprinting, a process by which certain genes are
expressed in a parent-of-origin-specific manner, can influence neurogenetic and psychiatric …

Background Turner syndrome (TS) and Noonan syndrome (NS) are distinct genetic
conditions with highly similar physical and neurodevelopmental phenotypes. TS is caused …

Although it has been shown that cortical thickness (Cth) differs between sexes, the
underlying mechanisms are unknown. Seeing as XXY males have 1 extra X chromosome …

The Ras-MAPK pathway has an established role in neural development and synaptic
signaling. Mutations in this pathway are associated with a collection of neurodevelopmental …

Objective Studies in estrogen deficiency states such as primary ovarian insufficiency and
Turner syndrome suggest that estrogen status may be an important modulator of mood and …