Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. Physiologically, males inherit one X chromosome from their mothers and one Y chromosome from their fathers and thus possess XY. Males with Klinefelter syndrome have an additional X chromosome that is inherited from either the mother or the father and therefore have XXY.
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.
One out of every 500 to 1,000 boys is born with one or more extra X chromosomes, which can cause a variety of symptoms as the extra chromosomes to including infertility, larger breasts, osteoporosis, diabetes, cardiac problems, intellectual incapacity, and cancer.
In this interview, we speak to Dr. Miguel J. Xavier about his latest research into male infertility and how de novo mutations may play a part.
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