Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Abstract Background Sex chromosome aneuploidies (SCAs) give rise to a broad range of
phenotypic traits and diseases. Previous studies based on peripheral blood samples have …

Humans show reproducible sex-differences in cognition and psychopathology that may be
contributed to by influences of gonadal sex-steroids and/or sex-chromosomes on regional …

Chromosome gains are detrimental for the development of the human embryo. As such,
autosomal trisomies almost always result in spontaneous abortion, and the rare embryos …

Somatic cells of human males and females have 45 chromosomes in common, including
the" active" X chromosome. In males the 46 th chromosome is a Y; in females it is an" …

One of the two X chromosomes in females is epigenetically inactivated, thereby
compensating for the dosage difference in X‐linked genes between XX females and XY …

Aneuploidy syndromes impact multiple organ systems but understanding of tissue-specific
aneuploidy effects remains limited—especially for the comparison between peripheral …

MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus
playing key roles not only in almost all physiological pathways, but also in the pathogenesis …

The" inactive" X chromosome (Xi) has been assumed to have little impact, in trans, on the"
active" X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one …