Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turner syndrome may have only a few features, while others may have many. Almost all people with Turner syndrome have short stature and loss of ovarian function, but the severity of these problems varies considerably amongst individuals.
Researchers at the Francis Crick Institute, working with University of Oxford, University of York and Oxford Archaeology, have developed a new technique to measure the number of chromosomes in ancient genomes more precisely, using it to identify the first prehistoric person with mosaic Turner syndrome (characterized by one X chromosome instead of two [XX]), who lived about 2500 years ago.
Scientists have discovered a major mechanism in the inactivation of X chromosomes, an event that may hold clues to develop treatments for congenital disorders.
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